ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)

gnomAD frequency: 0.02604  dbSNP: rs34292743
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081172 SCV000113080 benign not specified 2014-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000081172 SCV000196853 benign not specified 2014-07-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000081172 SCV000310631 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080326 SCV000438154 likely benign Muscular dystrophy-dystroglycanopathy type B6 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000329680 SCV000438155 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514085 SCV000610666 benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Invitae RCV001080326 SCV000638976 benign Muscular dystrophy-dystroglycanopathy type B6 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000514085 SCV001144421 benign not provided 2018-12-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081172 SCV000193504 likely benign not specified 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.