ClinVar Miner

Submissions for variant NM_000199.4(SGSH):c.1182G>T (p.Met394Ile) (rs34297805)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000354325 SCV000407347 likely benign Sanfilippo syndrome 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676148 SCV000801895 benign not provided 2016-07-27 no assertion criteria provided clinical testing
PreventionGenetics RCV000245411 SCV000302952 benign not specified criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000245411 SCV000803485 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.

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.