ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.168G>A (p.Thr56=)

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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 RCV003050718 SCV003444024 likely benign Cerebral cavernous malformation 2022-05-09 criteria provided, single submitter clinical testing

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