ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.1338C>G (p.Arg446=)

gnomAD frequency: 0.00073  dbSNP: rs377160616
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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 RCV002130176 SCV002437372 benign not provided 2024-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486931 SCV002801625 likely benign Maturity-onset diabetes of the young type 11 2021-10-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933549 SCV004747307 likely benign BLK-related disorder 2019-06-12 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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