ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.1056A>G (p.Glu352=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005187975 SCV005820713 likely benign Oculodentodigital dysplasia, autosomal recessive 2024-12-03 criteria provided, single submitter clinical testing

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