ClinVar Miner

Submissions for variant NM_001805.4(CEBPE):c.653T>C (p.Val218Ala)

dbSNP: rs747524697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262447 SCV001440326 likely pathogenic Specific granule deficiency 1 2019-01-01 criteria provided, single submitter clinical testing
OMIM RCV002285023 SCV002573539 pathogenic SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT 2022-09-16 no assertion criteria provided literature only

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