ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.935G>A (p.Arg312Gln)

gnomAD frequency: 0.00156  dbSNP: rs201294090
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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) RCV000598160 SCV000706362 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000598160 SCV001046517 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000598160 SCV002601403 uncertain significance not provided 2024-02-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in association with Galloway-Mowat syndrome to our knowledge; This variant is associated with the following publications: (PMID: 33747040)
CeGaT Center for Human Genetics Tuebingen RCV000598160 SCV004137533 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing WDR73: BP4
PreventionGenetics, part of Exact Sciences RCV004553325 SCV004782737 likely benign WDR73-related disorder 2021-05-31 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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