ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.345C>T (p.His115=)

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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 RCV002637779 SCV003518238 likely benign Myopathy, centronuclear, 2 2023-10-30 criteria provided, single submitter clinical testing

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