ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.1785C>G (p.Ala595=)

dbSNP: rs766211079
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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 RCV000807049 SCV000947077 likely benign Atrioventricular septal defect 5 2024-10-15 criteria provided, single submitter clinical testing

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