ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.851+10C>T (rs778394235)

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
Invitae RCV000925790 SCV001071340 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001159326 SCV001321033 uncertain significance Mucopolysaccharidosis, MPS-III-C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001400192 SCV001601995 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-11-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001159326 SCV001460916 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-04-14 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.