ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1614-4G>C

dbSNP: rs376324026
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724419 SCV000225827 uncertain significance not provided 2015-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000724419 SCV000526270 likely benign not provided 2020-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088850 SCV001008370 likely benign Charcot-Marie-Tooth disease type 2 2024-07-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724419 SCV001155061 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172982 SCV001336057 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Genesis Genome Database RCV000857179 SCV000999761 uncertain significance Charcot-Marie-Tooth disease, type I 2019-08-14 no assertion criteria provided research

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