ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.-34C>T

gnomAD frequency: 0.17414  dbSNP: rs3201779
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
Eurofins Ntd Llc (ga) RCV000082170 SCV000114116 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000082170 SCV000168557 benign not specified 2013-12-21 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 RCV000082170 SCV000314260 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527240 SCV001738198 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527241 SCV001738199 benign Muscular dystrophy-dystroglycanopathy type B5 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527274 SCV001738232 benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716936 SCV005310988 benign not provided criteria provided, single submitter not provided

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.