ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.1176A>G (p.Pro392=)

gnomAD frequency: 0.00001  dbSNP: rs538610091
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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 RCV002200098 SCV002359627 likely benign Cerebral cavernous malformation 2022-07-19 criteria provided, single submitter clinical testing

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