ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.663+17T>C (rs6565647)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078355 SCV000110201 benign not specified 2017-08-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078355 SCV000302956 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589032 SCV000695957 benign not provided 2016-08-22 criteria provided, single submitter clinical testing Variant summary: The SGSH c.663+17T>C variant involves the alteration of a non-conserved intronic nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 40694/78358 (9033 homozygotes) at a frequency of 0.5193343, which suggests that the variant of interest is the major allele (allele most commonly observed in the general population). A reputable clinical laboratory cites the variant as "benign." Therefore, the variant of interest has been classified as Benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000608118 SCV000745250 benign Mucopolysaccharidosis, MPS-III-A 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000608118 SCV001727025 benign Mucopolysaccharidosis, MPS-III-A 2020-12-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608118 SCV000733742 benign Mucopolysaccharidosis, MPS-III-A no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000589032 SCV000801903 benign not provided 2015-10-22 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.