ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.479T>A (p.Leu160Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759488 SCV005368040 likely pathogenic Cerebral cavernous malformation 2024-04-23 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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