ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.48C>A (p.Ala16=)

gnomAD frequency: 0.00001  dbSNP: rs764776127
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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 RCV002152093 SCV002411024 likely benign Atrioventricular septal defect 5 2021-08-15 criteria provided, single submitter clinical testing

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