ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) (rs150710956)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992576 SCV001144976 likely benign not provided 2019-03-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000819 SCV001157884 likely benign Polycystic kidney disease, adult type 2019-01-22 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV001254279 SCV001430244 likely benign Polycystic kidney disease, autosomal dominant 2019-01-01 criteria provided, single submitter research

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