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Variant : CV102537 (NM_198270.3(NHS):c.566-10dup) Homo sapiens

Symbol: CV102537
Name: NM_198270.3(NHS):c.566-10dup
Condition: AllHighlyPenetrant [RCV000082806]|not specified [RCV000082806]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 02/21/2016
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: duplication (SO:1000035)
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.17687732dup
Human AssemblyChrPosition (strand)Source
GRCh38X17,687,732 - 17,687,732CLINVAR
GRCh37X17,705,852 - 17,705,852CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8643554
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.