ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.411C>T (p.Tyr137=)

gnomAD frequency: 0.00017  dbSNP: rs201088822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839671 SCV000981574 likely benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067511 SCV002383963 likely benign Oculodentodigital dysplasia, autosomal recessive 2024-01-25 criteria provided, single submitter clinical testing

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