ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu)

dbSNP: rs144455663
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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) RCV000298230 SCV000344244 uncertain significance not provided 2016-07-26 criteria provided, single submitter clinical testing
GeneDx RCV000298230 SCV002587889 uncertain significance not provided 2022-04-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002480045 SCV002782473 uncertain significance Polycystic kidney disease 4 2022-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021292 SCV005006786 likely benign Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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