ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2115+5957C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV004555768 SCV005044709 uncertain significance Charcot-Marie-Tooth disease type 2A1 criteria provided, single submitter clinical testing

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