ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.1384A>G (p.Thr462Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002381230 SCV002696491 likely benign Inborn genetic diseases 2023-02-09 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.
Invitae RCV003633653 SCV004465705 likely benign Cerebral cavernous malformation 2023-08-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548289 SCV004780241 likely benign KRIT1-related disorder 2021-08-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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