ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.444T>C (p.His148=)

gnomAD frequency: 0.00014  dbSNP: rs746035680
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478792 SCV001683068 likely benign Cerebral cavernous malformation 2023-05-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664892 SCV001880890 benign not specified 2021-01-20 criteria provided, single submitter clinical testing

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