ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.1757C>G (p.Pro586Arg)

dbSNP: rs113005319
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513479 SCV001721101 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001513479 SCV001783745 likely benign not provided 2020-04-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513479 SCV005260208 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980512 SCV004799608 benign DVL1-related disorder 2019-10-16 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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