ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6282G>A (p.Trp2094Ter)

dbSNP: rs2151788870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001533184 SCV001746630 pathogenic Polycystic kidney disease, adult type 2021-01-04 criteria provided, single submitter clinical testing

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