ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1003-15G>A

gnomAD frequency: 0.00095  dbSNP: rs149290511
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244281 SCV000315923 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058398 SCV002455966 benign Myopathy, centronuclear, 2 2024-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710671 SCV005262782 likely benign not provided criteria provided, single submitter not provided

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