ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.690G>T (p.Thr230=)

gnomAD frequency: 0.16355  dbSNP: rs34529039
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242634 SCV000310136 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000020588 SCV001717070 benign Acute myeloid leukemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001711076 SCV001946685 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001711076 SCV004564905 benign not provided 2023-11-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711076 SCV005314361 benign not provided criteria provided, single submitter not provided

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