ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.1132-8C>T

gnomAD frequency: 0.00002  dbSNP: rs748964975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174107 SCV000225347 uncertain significance not provided 2015-02-05 criteria provided, single submitter clinical testing
Invitae RCV001485092 SCV001689519 likely benign Muscular dystrophy-dystroglycanopathy type B6 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955021 SCV004766849 likely benign LARGE1-related disorder 2024-02-27 criteria provided, single submitter 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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