ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) (rs587781248)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Medical Genetics, Telemark Hospital Trust RCV000657159 SCV000778872 uncertain significance Spasticity 2018-06-17 no assertion criteria provided research
Hehr Laboratory,Center for Human Genetics - University of Regensburg RCV000681482 SCV000808932 pathogenic Spastic paraplegia 31, autosomal dominant 2016-12-19 no assertion criteria provided clinical testing
Inherited Neuropathy Consortium RCV000790184 SCV000929575 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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