ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6987_6993GCTGGCG[3] (p.Val2334fs) (rs1555453872)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501173 SCV000592797 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095637 SCV001251278 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM2, PP4
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197334 SCV001368016 pathogenic Ichthyosis (disease) 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in heterozygous state.
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV001249167 SCV001422372 pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing

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