ClinVar Miner

Submissions for variant NM_003921.5(BCL10):c.24C>G (p.Leu8=)

gnomAD frequency: 0.27956  dbSNP: rs11576939
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455048 SCV000538397 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Associated with advanced germ cell tumors, unrelated to patient disease
Labcorp Genetics (formerly Invitae), Labcorp RCV001510946 SCV001718107 benign Immunodeficiency 37 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713977 SCV005280957 benign not provided criteria provided, single submitter not provided

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