ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1674+7G>C

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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 RCV003511391 SCV004354371 likely benign Myopathy, centronuclear, 2 2023-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909033 SCV004719021 likely benign BIN1-related disorder 2019-07-29 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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