ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.729+8T>C

gnomAD frequency: 0.00001  dbSNP: rs1208375976
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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 RCV001997879 SCV002247646 likely benign Cerebral cavernous malformation 2020-12-19 criteria provided, single submitter clinical testing

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