ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1809+16C>T

gnomAD frequency: 0.00001  dbSNP: rs752229312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174153 SCV001337274 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002240918 SCV002508572 likely benign Charcot-Marie-Tooth disease type 2 2024-12-21 criteria provided, single submitter clinical testing

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