ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.987C>T (p.Ile329=)

gnomAD frequency: 0.00004  dbSNP: rs775525143
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002129413 SCV002402063 likely benign Charcot-Marie-Tooth disease type 2R 2023-07-17 criteria provided, single submitter clinical testing

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