ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.391-43T>A

gnomAD frequency: 0.00920  dbSNP: rs116414807
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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 RCV000244037 SCV000315803 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000244037 SCV000700460 benign not specified 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001575533 SCV001802548 likely benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828153 SCV002083409 benign Autosomal recessive polycystic kidney disease 2018-04-13 no assertion criteria provided clinical testing

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