ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.729C>T (p.Gly243=)

gnomAD frequency: 0.00001  dbSNP: rs1323741166
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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 RCV002130674 SCV002446667 likely benign Atrioventricular septal defect 5 2023-07-07 criteria provided, single submitter clinical testing

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