ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10319del (p.Gly3440fs)

dbSNP: rs2091891993
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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 Mendelian Genomics, University Medical Centre Ljubljana RCV001198903 SCV001369898 pathogenic Polycystic kidney disease, adult type 2018-10-17 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4.

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