ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1674+20G>A

gnomAD frequency: 0.00029  dbSNP: rs374227714
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002182078 SCV002333166 benign Myopathy, centronuclear, 2 2023-11-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709178 SCV005244650 benign not provided criteria provided, single submitter not provided

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