ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.591A>G (p.Ser197=)

gnomAD frequency: 0.87940  dbSNP: rs2271432
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839046 SCV000980928 benign not provided 2018-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000839046 SCV002403658 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245708 SCV002514952 benign Galloway-Mowat syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000839046 SCV005291982 benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724172 SCV001958585 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724172 SCV001964795 benign not specified no assertion criteria provided clinical testing

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