ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11289_11299del (p.Gly3764fs)

dbSNP: rs2151699891
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genesis Genoma Lab, Genesis Genoma Lab RCV001506979 SCV001665778 likely pathogenic Polycystic kidney disease, adult type 2021-06-04 no assertion criteria provided clinical testing The detected variant has not been reported in the literature in polycystic kidney disease patients and is absent from population databases. Pathogenic frameshift mutations downstreem of the reported variant have been reported in ClinVar database. It is classified as likely pathogenic according to the criteria of ACMG (PVS1, PM2). It was identified in a patient with a clinical diagnosis of polycystic kidney disease.

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