ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.582C>T (p.Leu194=)

gnomAD frequency: 0.00001  dbSNP: rs1319287534
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002198397 SCV002485443 likely benign Myopathy, centronuclear, 2 2020-11-17 criteria provided, single submitter clinical testing

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