ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.858-5C>T

gnomAD frequency: 0.00222  dbSNP: rs75328896
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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 RCV000560847 SCV000634520 benign Myopathy, centronuclear, 2 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000602308 SCV000719907 likely benign not specified 2017-06-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV003935430 SCV004753925 benign BIN1-related disorder 2019-12-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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