ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.1516+20G>A

gnomAD frequency: 0.00002  dbSNP: rs764483117
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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 RCV003011332 SCV003300522 likely benign Atrioventricular septal defect 5 2022-07-03 criteria provided, single submitter clinical testing

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