ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5909-46A>G

gnomAD frequency: 0.70194  dbSNP: rs1266889
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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 RCV000252720 SCV000315816 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530421 SCV001745242 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001618477 SCV001843453 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530421 SCV002029994 benign Polycystic kidney disease 4 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828154 SCV002078062 benign Autosomal recessive polycystic kidney disease 2018-04-12 no assertion criteria provided clinical testing

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