ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.825C>T (p.Thr275=)

gnomAD frequency: 0.00010  dbSNP: rs777305726
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001447825 SCV001650901 likely benign Oculodentodigital dysplasia, autosomal recessive 2022-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000865005 SCV001981972 likely benign not provided 2020-12-10 criteria provided, single submitter clinical testing

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