ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2407+50C>T

gnomAD frequency: 0.41035  dbSNP: rs10948667
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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 RCV000250198 SCV000315790 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530438 SCV001745266 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001711740 SCV001946592 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828152 SCV002081031 benign Autosomal recessive polycystic kidney disease 2018-04-12 no assertion criteria provided clinical testing

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