ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.636G>C (p.Leu212=)

gnomAD frequency: 0.00131  dbSNP: rs150076154
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002065560 SCV002404026 benign Cerebral cavernous malformation 2 2022-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353078 SCV004054514 likely benign Inborn genetic diseases 2023-06-19 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 RCV003940667 SCV004764496 likely benign CCM2-related disorder 2023-06-07 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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