ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.126G>A (p.Leu42=)

gnomAD frequency: 0.00021  dbSNP: rs146579519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585503 SCV000693237 likely benign not provided 2017-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061966 SCV002480727 likely benign Cerebral cavernous malformation 2 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377207 SCV002685379 likely benign Inborn genetic diseases 2022-06-12 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.
Breakthrough Genomics, Breakthrough Genomics RCV000585503 SCV005227318 likely benign not provided criteria provided, single submitter not provided

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