ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8643-24A>G

gnomAD frequency: 0.05514  dbSNP: rs2766125
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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 RCV000249493 SCV000315847 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001594920 SCV001829406 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828159 SCV002077972 benign Autosomal recessive polycystic kidney disease 2018-04-12 no assertion criteria provided clinical testing

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