ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.812T>A (p.Leu271His)

gnomAD frequency: 0.00014  dbSNP: rs750887164
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734824 SCV000862996 likely benign not specified 2018-08-20 criteria provided, single submitter clinical testing
Invitae RCV000860528 SCV001000601 likely benign Autosomal recessive polycystic kidney disease 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975293 SCV004787384 likely benign PKHD1-related condition 2022-03-15 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. RCV000860528 SCV002083386 benign Autosomal recessive polycystic kidney disease 2020-05-11 no assertion criteria provided clinical testing

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