ClinVar Miner

Submissions for variant NM_021813.4(BACH2):c.249A>G (p.Thr83=)

gnomAD frequency: 0.40259  dbSNP: rs2236181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514432 SCV001722276 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553900 SCV001774991 benign Immunodeficiency 60 2021-07-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394090 SCV004101964 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 67% of patients studied by a panel of primary immunodeficiencies. Number of patients: 64. Only high quality variants are reported.

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