ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.1440C>T (p.Pro480=)

dbSNP: rs1321821110
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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 RCV001465386 SCV001669371 likely benign Cerebral cavernous malformation 2018-04-28 criteria provided, single submitter clinical testing

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