ClinVar Miner

Submissions for variant NM_198334.3(GANAB):c.2177T>C (p.Met726Thr)

gnomAD frequency: 0.00001  dbSNP: rs772357517
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763906 SCV002000121 uncertain significance not provided 2020-10-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002503221 SCV002814653 uncertain significance Polycystic kidney disease 3 with or without polycystic liver disease 2022-03-11 criteria provided, single submitter clinical testing

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