ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.918T>C (p.Arg306=)

dbSNP: rs2131642409
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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 RCV001393245 SCV001594905 likely benign Cerebral cavernous malformation 2019-03-07 criteria provided, single submitter clinical testing

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