ClinVar Miner

Submissions for variant NM_015634.4(KIFBP):c.557G>A (p.Arg186His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002280451 SCV002568566 uncertain significance not provided 2022-08-15 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002280451 SCV003263442 likely benign not provided 2024-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047549 SCV004893955 likely benign not specified 2021-05-24 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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