ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.1155C>T (p.Cys385=)

gnomAD frequency: 0.00001  dbSNP: rs561297159
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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 RCV005092926 SCV001118107 likely benign Charcot-Marie-Tooth disease type 2R 2024-05-14 criteria provided, single submitter clinical testing

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