ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1190-10dup

dbSNP: rs150523349
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078373 SCV000110219 benign not specified 2012-07-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586922 SCV000695967 benign not provided 2016-01-15 criteria provided, single submitter clinical testing Variant summary: The c.1190-10dupC variant affects a intronic polyC site. One in-silico tool predicts benign outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. This variant is found in 1655/7502 control chromosomes (116 homozygotes) at a frequency of 0.2206078, which is about 82 times of maximal expected frequency of a pathogenic allele (0.0026926), suggesting this variant is benign. In addition, one clinical laboratory classified this variant as bengin. Taken together, this variant was classified as benign.
Invitae RCV001276018 SCV001723771 benign Mucopolysaccharidosis type 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000586922 SCV001753819 benign not provided 2018-09-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000586922 SCV000801307 benign not provided 2016-02-02 no assertion criteria provided clinical testing
Natera, Inc. RCV001276018 SCV001461762 benign Mucopolysaccharidosis type 1 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000078373 SCV001920488 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000078373 SCV001955468 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000078373 SCV001965174 benign not specified no assertion criteria provided clinical testing

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