ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.831C>T (p.Ile277=)

gnomAD frequency: 0.00017  dbSNP: rs142678486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734196 SCV000862320 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV001465273 SCV001669256 likely benign Autosomal recessive polycystic kidney disease 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918225 SCV004735146 likely benign PKHD1-related disorder 2022-01-17 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).

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