ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.762G>A (p.Glu254=)

gnomAD frequency: 0.00003  dbSNP: rs199678533
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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 RCV001405983 SCV001607928 likely benign Charcot-Marie-Tooth disease type 2R 2021-10-09 criteria provided, single submitter clinical testing

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