ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.339C>T (p.Leu113=)

gnomAD frequency: 0.00032  dbSNP: rs146259619
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865323 SCV001006268 benign Cerebral cavernous malformation 2 2023-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432804 SCV004156862 benign not provided 2023-04-01 criteria provided, single submitter clinical testing CCM2: BP4, BS1, BS2
Ambry Genetics RCV004027649 SCV005029118 likely benign Inborn genetic diseases 2024-01-05 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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