ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg)

dbSNP: rs2092338268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663791 SCV001879452 likely pathogenic not provided 2021-03-09 criteria provided, single submitter clinical testing This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with autosomal dominant polycystic kidney disease (ADPKD). Computational tools predict that this variant is damaging. The variant is located in a region that is considered important for protein function and/or structure.
Fulgent Genetics, Fulgent Genetics RCV005005992 SCV005638327 likely pathogenic Polycystic kidney disease, adult type 2024-04-11 criteria provided, single submitter clinical testing

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