ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln)

gnomAD frequency: 0.00009  dbSNP: rs370557603
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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) RCV000312260 SCV000344931 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480053 SCV002780638 uncertain significance Polycystic kidney disease 4 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021301 SCV005005308 likely benign Inborn genetic diseases 2023-09-22 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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