ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.351G>A (p.Ala117=)

gnomAD frequency: 0.03813  dbSNP: rs35888291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245731 SCV000314790 benign not specified 2018-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000245731 SCV000731193 benign not specified 2018-02-14 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 RCV001511611 SCV001718886 benign Cerebral cavernous malformation 2 2024-01-25 criteria provided, single submitter clinical testing

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