ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.15C>T (p.Ser5=)

gnomAD frequency: 0.00001  dbSNP: rs758641783
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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 RCV002116268 SCV002447808 likely benign Oculodentodigital dysplasia, autosomal recessive 2021-12-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331314 SCV004038737 likely benign not specified 2023-08-21 criteria provided, single submitter clinical testing

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