ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.187G>A (p.Val63Ile)

gnomAD frequency: 0.00118  dbSNP: rs61732295
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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 RCV000917074 SCV001062339 benign not provided 2023-07-27 criteria provided, single submitter clinical testing
GeneDx RCV000917074 SCV001793508 likely benign not provided 2020-09-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 10767631)
Mayo Clinic Laboratories, Mayo Clinic RCV000917074 SCV004035204 uncertain significance not provided 2018-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970442 SCV004788085 likely benign GJB3-related disorder 2023-07-27 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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