ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.248del (p.Val83fs) (rs587776508)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454329 SCV000537989 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Baylor Genetics RCV000679867 SCV000807236 pathogenic Spastic paraplegia 55, autosomal recessive 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in a homozygous state in a 15-year-old male with hypertonia, worsening gait abnormalities, trembling hands, joint contractures, optic atrophy, CMT-like gait and foot problems, increased reflexes.
OMIM RCV000000070 SCV000020213 pathogenic Combined oxidative phosphorylation deficiency 7 2010-07-09 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003606 SCV001162000 likely pathogenic Epileptic encephalopathy no assertion criteria provided research

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