ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.177G>A (p.Val59=)

gnomAD frequency: 0.00017  dbSNP: rs371315460
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001568529 SCV001792416 likely benign not provided 2020-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001568529 SCV003285923 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001568529 SCV004126919 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing DVL1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003956257 SCV004776063 likely benign DVL1-related disorder 2022-05-04 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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