ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.803T>C (p.Leu268Pro) (rs62636502)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001007466 SCV001167079 pathogenic Charcot-Marie-Tooth disease type 2E criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057148 SCV000088261 not provided not provided no assertion provided not provided

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