ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11135G>A (p.Arg3712Gln)

gnomAD frequency: 0.00009  dbSNP: rs144624467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002275752 SCV002562332 uncertain significance not provided 2022-02-11 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
Ambry Genetics RCV003164400 SCV003874361 likely benign Inborn genetic diseases 2023-03-01 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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