ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1234-39C>G

gnomAD frequency: 0.02051  dbSNP: rs115660674
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242471 SCV000315771 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001640576 SCV001859167 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833284 SCV002083376 benign Autosomal recessive polycystic kidney disease 2018-04-13 no assertion criteria provided clinical testing

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