ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1264-5A>C

gnomAD frequency: 0.00009  dbSNP: rs541219767
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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 RCV000558619 SCV000634503 likely benign Myopathy, centronuclear, 2 2024-10-10 criteria provided, single submitter clinical testing
GeneDx RCV001786398 SCV002028636 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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