ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys)

gnomAD frequency: 0.00018  dbSNP: rs200986136
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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) RCV000488108 SCV000114587 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV001488784 SCV001693309 likely benign Autosomal recessive polycystic kidney disease 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002513851 SCV003690696 likely benign Inborn genetic diseases 2024-02-28 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.
Revvity Omics, Revvity RCV003133132 SCV003808430 uncertain significance Polycystic kidney disease 4 2022-05-23 criteria provided, single submitter clinical testing

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