ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.1278G>A (p.Ser426=)

dbSNP: rs371498958
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002129255 SCV002453621 likely benign Cerebral cavernous malformation 2 2023-11-18 criteria provided, single submitter clinical testing

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