ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12138+22del (rs199701927)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507104 SCV000604724 benign Polycystic kidney disease, adult type 2018-07-13 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV001254229 SCV001430172 benign Polycystic kidney disease, autosomal dominant 2019-01-01 criteria provided, single submitter research

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