ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter)

dbSNP: rs762003393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000625579 SCV001367343 pathogenic Polycystic kidney disease, adult type 2019-09-04 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,PP5.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625579 SCV000746077 pathogenic Polycystic kidney disease, adult type 2017-09-18 no assertion criteria provided clinical testing

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