ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.777G>A (p.Glu259=)

gnomAD frequency: 0.00001  dbSNP: rs765305537
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002066209 SCV002395296 likely benign Cerebral cavernous malformation 2 2022-10-11 criteria provided, single submitter clinical testing

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