ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup)

dbSNP: rs780345232
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466650 SCV000548549 benign Acute myeloid leukemia 2024-01-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258908 SCV002531735 likely benign Hereditary cancer-predisposing syndrome 2020-12-03 criteria provided, single submitter curation
Ambry Genetics RCV004609385 SCV005105505 likely benign Inborn genetic diseases 2024-03-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genomic Diagnostics Laboratory, National Institute of Medical Genomics RCV000466650 SCV002104198 likely pathogenic Acute myeloid leukemia flagged submission clinical testing The variant was detected in bone marrow from patients, but it was not confirmed in the matched

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