ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.527+19T>C

gnomAD frequency: 0.27509  dbSNP: rs9474140
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082557 SCV000114599 benign not specified 2015-10-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082557 SCV000315812 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001516744 SCV001725075 benign Autosomal recessive polycystic kidney disease 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530458 SCV001745295 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001650933 SCV001868677 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001516744 SCV002083403 benign Autosomal recessive polycystic kidney disease 2018-04-12 no assertion criteria provided clinical testing

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