ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.998A>T (p.Glu333Val)

dbSNP: rs863224873
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000195583 SCV000255373 likely pathogenic Charcot-Marie-Tooth disease type 2D; Neuronopathy, distal hereditary motor, type 5A 2013-08-06 criteria provided, single submitter clinical testing

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