ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.1005+11_1005+16del

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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 RCV003744129 SCV004410320 likely benign Charcot-Marie-Tooth disease type 2 2022-11-21 criteria provided, single submitter clinical testing

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