ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.1752C>T (p.Ile584=)

gnomAD frequency: 0.00011  dbSNP: rs148836047
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245463 SCV000316891 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002058469 SCV002356659 likely benign Cerebral cavernous malformation 2021-09-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372674 SCV004094176 likely benign Inborn genetic diseases 2023-08-06 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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