ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.109del (p.Cys37fs)

dbSNP: rs2151858299
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001661471 SCV001879411 pathogenic not provided 2021-04-13 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene.
Institute of Human Genetics, University of Leipzig Medical Center RCV004783978 SCV005397114 pathogenic Polycystic kidney disease, adult type 2024-10-30 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_MOD,PM2
Fulgent Genetics, Fulgent Genetics RCV004783978 SCV005640697 pathogenic Polycystic kidney disease, adult type 2024-05-17 criteria provided, single submitter clinical testing
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844992 SCV001876925 pathogenic Autosomal dominant polycystic kidney disease 2021-09-01 no assertion criteria provided research

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