ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.881+17G>A

dbSNP: rs1791560409
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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 RCV001172974 SCV001336049 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002240912 SCV002508597 likely benign Charcot-Marie-Tooth disease type 2 2022-11-07 criteria provided, single submitter clinical testing

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