ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.2871T>C (p.Asn957=)

gnomAD frequency: 0.00111  dbSNP: rs369322431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909673 SCV001054491 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000909673 SCV001151142 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing WDR81: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004551779 SCV004755333 likely benign WDR81-related disorder 2019-03-11 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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