ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1694-10C>G

gnomAD frequency: 0.00010  dbSNP: rs745911880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000981676 SCV001129659 likely benign Autosomal recessive polycystic kidney disease 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000981676 SCV001463513 uncertain significance Autosomal recessive polycystic kidney disease 2018-09-30 no assertion criteria provided clinical testing

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