ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val)

gnomAD frequency: 0.00001  dbSNP: rs727504088
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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) RCV000153719 SCV000203277 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765889 SCV000897298 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765889 SCV002481927 likely benign Autosomal recessive polycystic kidney disease 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516089 SCV003702359 likely benign Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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