ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile)

dbSNP: rs553752644
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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) RCV000729759 SCV000857446 uncertain significance not provided 2018-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085424 SCV001009886 benign Autosomal recessive polycystic kidney disease 2024-03-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001085424 SCV002075515 likely benign Autosomal recessive polycystic kidney disease 2020-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004748929 SCV005357106 likely benign PKHD1-related disorder 2024-05-05 no assertion criteria provided 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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