ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1904-18T>C

gnomAD frequency: 0.00036  dbSNP: rs41275991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697550 SCV000719748 likely benign not provided 2018-04-20 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174155 SCV001337276 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002232590 SCV002508660 likely benign Charcot-Marie-Tooth disease type 2 2025-01-14 criteria provided, single submitter clinical testing

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