ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.223G>T (p.Ala75Ser)

gnomAD frequency: 0.00001  dbSNP: rs556967140
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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 RCV000473536 SCV000541494 benign Atrioventricular septal defect 4 2024-09-04 criteria provided, single submitter clinical testing

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