ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.1419A>C (p.Gln473His)

dbSNP: rs748732288
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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 RCV001460490 SCV001664364 likely benign Cerebral cavernous malformation 2020-03-24 criteria provided, single submitter clinical testing

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