ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1443G>A (p.Ala481=)

gnomAD frequency: 0.00001  dbSNP: rs765816262
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 RCV001419730 SCV001621991 likely benign Myopathy, centronuclear, 2 2022-05-18 criteria provided, single submitter clinical testing

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