ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1002+2T>C

dbSNP: rs1553458019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498774 SCV000589871 likely pathogenic not provided 2022-11-22 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001782991 SCV002022043 likely pathogenic Myopathy, centronuclear, 2 2020-03-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001782991 SCV004806100 pathogenic Myopathy, centronuclear, 2 2024-03-25 criteria provided, single submitter clinical testing

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