ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5538C>T (p.Cys1846=)

gnomAD frequency: 0.00006  dbSNP: rs373244595
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001460324 SCV001664191 likely benign Autosomal recessive polycystic kidney disease 2024-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900589 SCV004711556 likely benign PKHD1-related disorder 2024-03-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001460324 SCV002078077 likely benign Autosomal recessive polycystic kidney disease 2020-04-18 no assertion criteria provided clinical testing

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