ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.417G>A (p.Ala139=)

gnomAD frequency: 0.00001  dbSNP: rs534011584
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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 RCV001066205 SCV001231210 likely benign Charcot-Marie-Tooth disease type 2R 2023-11-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693565 SCV005190308 uncertain significance not provided criteria provided, single submitter not provided

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