ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.1272C>T (p.Ser424=)

dbSNP: rs2149016663
Minimum review status: Collection method:
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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 RCV001482544 SCV001686918 likely benign Cataract 1 multiple types 2019-09-25 criteria provided, single submitter clinical testing

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