ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.984G>A (p.Gly328=)

gnomAD frequency: 0.00732  dbSNP: rs112504276
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001000666 SCV001006485 benign Cerebral cavernous malformation 2 2023-12-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000666 SCV001157696 benign Cerebral cavernous malformation 2 2021-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381934 SCV002693205 likely benign Inborn genetic diseases 2022-03-03 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.
Fulgent Genetics, Fulgent Genetics RCV001000666 SCV002804906 likely benign Cerebral cavernous malformation 2 2022-05-11 criteria provided, single submitter clinical testing

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