ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11453del (p.Gly3818fs)

dbSNP: rs1567153194
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001795810 SCV002035330 likely pathogenic Polycystic kidney disease, adult type no assertion criteria provided clinical testing

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