ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.573C>T (p.His191=)

gnomAD frequency: 0.02004  dbSNP: rs192240793
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250116 SCV000310135 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000463990 SCV000559474 benign Acute myeloid leukemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001618432 SCV001847406 benign not provided 2018-11-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001618432 SCV004563838 benign not provided 2023-11-16 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000250116 SCV001799038 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000250116 SCV001931553 benign not specified no assertion criteria provided clinical testing

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