ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1119C>T (p.Thr373=)

gnomAD frequency: 0.00001  dbSNP: rs1444368852
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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 RCV001501063 SCV001705867 likely benign Myopathy, centronuclear, 2 2023-10-03 criteria provided, single submitter clinical testing
GeneDx RCV003319474 SCV004023784 uncertain significance not provided 2023-02-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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