ClinVar Miner

Submissions for variant NM_001277062.2(MFF):c.375_376del (p.Glu127fs)

dbSNP: rs879255690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000239645 SCV002764791 pathogenic Encephalopathy due to defective mitochondrial and peroxisomal fission 2 2018-01-15 criteria provided, single submitter clinical testing
OMIM RCV000239645 SCV000298173 pathogenic Encephalopathy due to defective mitochondrial and peroxisomal fission 2 2016-08-25 no assertion criteria provided literature only

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