ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.270G>A (p.Arg90=)

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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 RCV005201387 SCV005837501 likely benign Charcot-Marie-Tooth disease type 2 2024-10-16 criteria provided, single submitter clinical testing

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