ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7486+41C>A

dbSNP: rs982874
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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 RCV000243393 SCV000315826 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530418 SCV001745239 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001651269 SCV001868059 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833285 SCV002078021 benign Autosomal recessive polycystic kidney disease 2018-04-12 no assertion criteria provided clinical testing

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