ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.135C>G (p.Pro45=)

dbSNP: rs1297614525
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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 RCV000527740 SCV000652002 likely benign Atrioventricular septal defect 4 2023-10-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437271 SCV004164370 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing GATA4: BP4, BP7

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