ClinVar Miner

Submissions for variant NM_003921.5(BCL10):c.489G>A (p.Thr163=)

gnomAD frequency: 0.00003  dbSNP: rs139473915
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000936199 SCV001081962 likely benign Immunodeficiency 37 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978099 SCV004792954 likely benign BCL10-related disorder 2019-04-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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