ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.830G>A (p.Gly277Asp)

gnomAD frequency: 0.00001  dbSNP: rs1421166194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336725 SCV001530191 uncertain significance Cerebral cavernous malformation 2 2018-08-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001336725 SCV005916125 uncertain significance Cerebral cavernous malformation 2 2022-08-02 criteria provided, single submitter research

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