ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.445del (p.Gln149fs)

dbSNP: rs796052133
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genetic Disorders, Banaras Hindu University RCV000190326 SCV000243857 pathogenic Polycystic kidney disease, adult type no assertion criteria provided not provided Converted during submission to Pathogenic.

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