ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9998+49A>G

gnomAD frequency: 0.32325  dbSNP: rs2397060
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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 RCV000249744 SCV000315856 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530471 SCV001745309 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001618478 SCV001846072 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828161 SCV002075527 benign Autosomal recessive polycystic kidney disease 2018-04-12 no assertion criteria provided clinical testing

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