ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.636A>G (p.Ala212=)

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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 RCV003634799 SCV004490754 likely benign Cerebral cavernous malformation 2022-12-27 criteria provided, single submitter clinical testing

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