ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter)

dbSNP: rs398122365
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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, University of Leipzig Medical Center RCV000074452 SCV001443006 likely pathogenic Hereditary spastic paraplegia 55 2020-03-01 criteria provided, single submitter clinical testing Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1_Strong,PM2,PM3,PP1
OMIM RCV000074452 SCV000108468 pathogenic Hereditary spastic paraplegia 55 2013-11-01 no assertion criteria provided literature only

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