ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.228C>T (p.His76=)

gnomAD frequency: 0.00001  dbSNP: rs754621895
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002075367 SCV002373205 likely benign Myopathy, centronuclear, 2 2022-09-19 criteria provided, single submitter clinical testing

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