ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.2512A>C (p.Asn838His)

gnomAD frequency: 0.00074  dbSNP: rs34647366
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500253 SCV000595373 benign not specified 2017-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000913658 SCV001058811 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000913658 SCV001899249 benign not provided 2020-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524209 SCV003701413 likely benign Inborn genetic diseases 2021-10-18 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.
PreventionGenetics, part of Exact Sciences RCV003915380 SCV004735309 benign KIF11-related disorder 2022-04-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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