ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.1959_1960insC (p.Lys654fs)

dbSNP: rs2131307878
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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 RCV001724743 SCV001950004 likely pathogenic Cerebral cavernous malformation 2021-04-14 criteria provided, single submitter clinical testing

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