ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11786-30C>T

gnomAD frequency: 0.14058  dbSNP: rs9395699
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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 RCV000245097 SCV000315766 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530467 SCV001745305 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001675762 SCV001892363 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833283 SCV002075467 benign Autosomal recessive polycystic kidney disease 2018-04-12 no assertion criteria provided clinical testing

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