ClinVar Miner

Submissions for variant NM_001805.4(CEBPE):c.222C>T (p.Thr74=)

gnomAD frequency: 0.00001  dbSNP: rs142854852
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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 RCV002216507 SCV002367977 likely benign Specific granule deficiency 2025-01-29 criteria provided, single submitter clinical testing

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