ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8949-17A>G

gnomAD frequency: 0.26586  dbSNP: rs9928278
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246909 SCV000305809 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999965 SCV000604685 benign Polycystic kidney disease, adult type 2020-07-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000246909 SCV000700388 benign not specified 2017-02-01 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254298 SCV001430200 benign Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research

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