ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.473G>A (p.Arg158Gln)

gnomAD frequency: 0.00020  dbSNP: rs150617550
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907172 SCV001051862 benign not provided 2023-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000907172 SCV002562313 uncertain significance not provided 2022-02-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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