ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.235A>G (p.Ile79Val)

gnomAD frequency: 0.00038  dbSNP: rs116801031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000964766 SCV001112006 likely benign Cerebral cavernous malformation 2023-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169482 SCV003911907 likely benign Inborn genetic diseases 2022-12-14 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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