ClinVar Miner

Submissions for variant NM_198334.3(GANAB):c.925C>T (p.Arg309Cys)

gnomAD frequency: 0.00691  dbSNP: rs1063445
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889067 SCV001032728 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171358 SCV001328305 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PP3, BS1
GeneDx RCV000889067 SCV001802990 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000889067 SCV002821629 benign not provided 2022-11-01 criteria provided, single submitter clinical testing GANAB: BS1, BS2
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844849 SCV001877059 uncertain significance Autosomal dominant polycystic liver disease 2021-09-01 no assertion criteria provided research

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