ClinVar Miner

Submissions for variant NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp)

gnomAD frequency: 0.00979  dbSNP: rs74342080
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 Laboratory Services, Illumina RCV000274618 SCV000445433 likely benign Deficiency of hyaluronoglucosaminidase 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000274618 SCV001107499 benign Deficiency of hyaluronoglucosaminidase 2025-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710956 SCV005261422 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000274618 SCV001460437 benign Deficiency of hyaluronoglucosaminidase 2020-09-16 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.