ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.804-12del

gnomAD frequency: 0.00408  dbSNP: rs533909649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611725 SCV000721151 likely benign not specified 2017-07-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002063936 SCV002403239 benign Cerebral cavernous malformation 2 2023-10-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002063936 SCV004564911 benign Cerebral cavernous malformation 2 2023-10-14 criteria provided, single submitter clinical testing

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