ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.906C>T (p.Leu302=)

gnomAD frequency: 0.00001  dbSNP: rs1289378857
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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 RCV002171937 SCV002474804 likely benign Atrioventricular septal defect 4 2024-06-02 criteria provided, single submitter clinical testing

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