ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2754T>C (p.Cys918=)

gnomAD frequency: 0.00001  dbSNP: rs767914603
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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 RCV001520959 SCV001730184 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-11-11 criteria provided, single submitter clinical testing

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