ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.272C>T (p.Ala91Val)

gnomAD frequency: 0.00208  dbSNP: rs145496306
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971452 SCV001119102 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000971452 SCV001811817 likely benign not provided 2023-09-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV002505473 SCV002811931 likely benign Autosomal dominant Robinow syndrome 1; Autosomal dominant Robinow syndrome 2 2021-09-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000971452 SCV005260386 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972919 SCV004799083 benign DVL1-related disorder 2019-03-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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