ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) (rs199476100)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712602 SCV000843119 pathogenic not provided 2017-11-29 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000712602 SCV000928064 pathogenic not provided 2018-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000008689 SCV000894071 pathogenic Polycystic kidney disease, adult type 2018-10-31 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000761309 SCV000891289 likely pathogenic Polycystic kidney disease 3 2018-03-28 criteria provided, single submitter clinical testing
OMIM RCV000008689 SCV000028898 pathogenic Polycystic kidney disease, adult type 1999-07-01 no assertion criteria provided literature only

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