ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.1620+7A>G

gnomAD frequency: 0.20625  dbSNP: rs3764962
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516951 SCV001725326 benign Atrioventricular septal defect 5 2025-02-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000117120 SCV003928215 benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709264 SCV005251245 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117120 SCV000151281 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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