ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) (rs112387277)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252377 SCV000305687 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712585 SCV000843101 benign not provided 2018-04-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001863 SCV001159580 benign Polycystic kidney disease, adult type 2019-05-24 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV001254184 SCV001430157 benign Polycystic kidney disease, autosomal dominant 2019-01-01 criteria provided, single submitter research

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