ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6293A>T (p.Asp2098Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004794152 SCV005411220 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing PP3, PM2, PM5
Fulgent Genetics, Fulgent Genetics RCV005017284 SCV005641328 likely pathogenic Polycystic kidney disease, adult type 2024-01-24 criteria provided, single submitter clinical testing

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