ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.775-6C>G

dbSNP: rs753202898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770640 SCV001993884 uncertain significance not provided 2019-05-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003771946 SCV004673688 likely benign Myopathy, centronuclear, 2 2023-11-06 criteria provided, single submitter clinical testing

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