ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2318C>T (p.Ser773Leu)

gnomAD frequency: 0.00001  dbSNP: rs554785074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001401908 SCV001603746 likely benign Charcot-Marie-Tooth disease axonal type 2Z 2024-04-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237784 SCV005885208 likely benign not specified 2025-02-25 criteria provided, single submitter clinical testing

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