ClinVar Miner

Submissions for variant NM_001805.4(CEBPE):c.723A>G (p.Ala241=)

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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 RCV002761374 SCV003028954 likely benign Specific granule deficiency 2024-11-17 criteria provided, single submitter clinical testing

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