ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002998966 SCV003293119 likely benign Cerebral cavernous malformation 2023-09-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002998966 SCV003812690 uncertain significance Cerebral cavernous malformation 2019-05-28 criteria provided, single submitter clinical testing

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