ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7733+33C>T

gnomAD frequency: 0.39361  dbSNP: rs9382044
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253324 SCV000315828 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530416 SCV001745237 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001594919 SCV001828849 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530416 SCV002029992 benign Polycystic kidney disease 4 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828155 SCV002078015 benign Autosomal recessive polycystic kidney disease 2018-04-12 no assertion criteria provided clinical testing

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