ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.966G>A (p.Thr322=)

gnomAD frequency: 0.00001  dbSNP: rs2033060375
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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 RCV001426513 SCV001629169 likely benign Atrioventricular septal defect 5 2022-09-01 criteria provided, single submitter clinical testing

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