ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.750C>A (p.Gly250=)

dbSNP: rs1024528816
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650080 SCV000771917 benign Atrioventricular septal defect 5 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001584498 SCV001811950 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing

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