ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1131+18C>T

gnomAD frequency: 0.00233  dbSNP: rs191760397
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247438 SCV000315924 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058399 SCV002341322 benign Myopathy, centronuclear, 2 2024-01-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708166 SCV005244667 benign not provided criteria provided, single submitter not provided

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