ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1353C>T (p.Ala451=)

gnomAD frequency: 0.00006  dbSNP: rs552244334
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000338571 SCV000341099 uncertain significance not provided 2016-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059218 SCV002362615 likely benign Myopathy, centronuclear, 2 2022-03-12 criteria provided, single submitter clinical testing

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