ClinVar Miner

Submissions for variant NM_181703.4(GJA5):c.726G>A (p.Arg242=)

gnomAD frequency: 0.00109  dbSNP: rs150432230
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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 RCV000863025 SCV001003614 benign Atrial standstill 1; Atrial fibrillation, familial, 11 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001565775 SCV001789185 likely benign not provided 2019-06-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001565775 SCV004124546 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing GJA5: BP4, BP7, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586963 SCV005077283 benign not specified 2024-04-08 criteria provided, single submitter clinical testing

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