ClinVar Miner

Submissions for variant NM_014168.4(METTL5):c.571_572del (p.Lys191fs)

dbSNP: rs1573965358
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine RCV000850069 SCV000966223 pathogenic Intellectual disability, severe criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV001264819 SCV001443062 likely pathogenic not provided 2020-11-16 criteria provided, single submitter clinical testing Review of the variants reported in Reuter et al., 2017, PMID: 28097321 PVS1_Strong, PM2, PM3_Supporting
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001264819 SCV001446743 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000856617 SCV000999151 pathogenic Intellectual developmental disorder, autosomal recessive 72 2019-11-22 no assertion criteria provided literature only

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