ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.384G>A (p.Glu128=)

gnomAD frequency: 0.01100  dbSNP: rs73694268
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242656 SCV000314792 benign not specified 2015-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000242656 SCV000732158 benign not specified 2017-08-31 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 RCV001001682 SCV001012743 benign Cerebral cavernous malformation 2 2024-01-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001682 SCV001159235 benign Cerebral cavernous malformation 2 2022-09-23 criteria provided, single submitter clinical testing

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