ClinVar Miner

Submissions for variant NM_021813.4(BACH2):c.452G>C (p.Arg151Pro)

gnomAD frequency: 0.00182  dbSNP: rs144637668
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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 RCV002202181 SCV002352625 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002202181 SCV005225025 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003950926 SCV004759545 benign BACH2-related disorder 2024-06-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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