ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.845+9T>G

gnomAD frequency: 0.00014  dbSNP: rs140152251
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873134 SCV001015068 likely benign Cerebral cavernous malformation 2022-08-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549968 SCV004724599 likely benign KRIT1-related disorder 2019-08-12 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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