ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) (rs759384989)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000664057 SCV000787484 likely pathogenic Mucopolysaccharidosis type 6 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Mucopolysaccharidosis type VI, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3 => Well-established functional studies show a deleterious effect (PMID:14974081).
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000664057 SCV000891179 likely pathogenic Mucopolysaccharidosis type 6 2018-10-03 criteria provided, single submitter clinical testing

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