ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8173+144G>A

gnomAD frequency: 0.45513  dbSNP: rs9474104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001530409 SCV001745230 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001615238 SCV001834272 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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