ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1632T>G (p.Gly544=)

gnomAD frequency: 0.00001  dbSNP: rs937564049
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001433276 SCV001636065 likely benign Myopathy, centronuclear, 2 2018-10-08 criteria provided, single submitter clinical testing

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