ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=)

dbSNP: rs77634115
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250243 SCV000305684 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000576653 SCV000604728 benign Polycystic kidney disease, adult type 2020-05-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576653 SCV000677391 benign Polycystic kidney disease, adult type 2017-05-30 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254230 SCV001430173 benign Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
GeneDx RCV001706304 SCV001868007 benign not provided 2019-12-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 10987650, 15772804)
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000250243 SCV000592857 benign not specified no assertion criteria provided clinical testing

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