ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12178dup (p.Gln4060fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004699111 SCV005200488 pathogenic Polycystic kidney disease, adult type criteria provided, single submitter clinical testing This variant is likely to result in a shift in the reading frame, which results in the premature termination which is likely to result in either truncated protein or nonsense mediated mRNA decay. The clinical findings observed in the proband and other affected individuals in the family are in concordance with polycystic kidney disease 1.

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