ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.290-2A>G

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000790987 SCV000930247 pathogenic Charcot-Marie-Tooth disease, type 4J 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000790988 SCV000930248 pathogenic Yunis Varon syndrome 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000790989 SCV000930249 pathogenic Polymicrogyria, bilateral temporooccipital 2019-04-27 criteria provided, single submitter clinical testing

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