ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.477G>A (p.Ala159=)

gnomAD frequency: 0.00051  dbSNP: rs146485488
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725073 SCV000333783 uncertain significance not provided 2017-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000725073 SCV000535255 likely benign not provided 2020-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000725073 SCV001039830 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678659 SCV005179912 likely benign Inborn genetic diseases 2024-04-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004547667 SCV004764309 likely benign WDR62-related disorder 2019-11-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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