ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)

dbSNP: rs750780241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001662799 SCV001879460 pathogenic not provided 2020-09-18 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.
Fulgent Genetics, Fulgent Genetics RCV000735685 SCV002778037 pathogenic Polycystic kidney disease, adult type 2021-12-10 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735685 SCV000863830 pathogenic Polycystic kidney disease, adult type 2018-03-12 no assertion criteria provided clinical testing

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