ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.372C>T (p.Ala124=)

gnomAD frequency: 0.00007  dbSNP: rs532888783
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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 RCV002143600 SCV002467014 likely benign Atrioventricular septal defect 5 2022-11-06 criteria provided, single submitter clinical testing

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