ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) (rs113993946)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790797 SCV000232923 pathogenic not provided 2013-09-25 criteria provided, single submitter clinical testing
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata RCV000180473 SCV000262515 pathogenic Mucopolysaccharidosis, MPS-II 2007-08-02 criteria provided, single submitter research
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000180473 SCV000929887 pathogenic Mucopolysaccharidosis, MPS-II 2019-01-01 criteria provided, single submitter literature only PS3: Low/absent enzymatic activity in hemyzygote. PM1: Located in a mutational hot spot. PM2: Absent from GnomAD. PP3: Multiple lines of computational evidence supporting a deleterious effect (DANN, MutationTaster, GERP, SIFT). PP5: reputable source report variant as pathogenic
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000180473 SCV001480198 pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
OMIM RCV000011244 SCV000031471 pathogenic Mucopolysaccharidosis, type II, severe form 1997-01-01 no assertion criteria provided literature only
GeneReviews RCV000180473 SCV000999927 pathogenic Mucopolysaccharidosis, MPS-II 2018-10-04 no assertion criteria provided literature only

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