ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.204+5C>T (rs182106777)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082220 SCV000287126 benign Myopathy with postural muscle atrophy, X-linked 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000429398 SCV000525206 benign not specified 2016-07-27 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.
Genetic Services Laboratory, University of Chicago RCV000429398 SCV000594777 likely benign not specified 2016-04-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000231045 SCV001143920 benign not provided 2019-05-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000429398 SCV001742720 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000231045 SCV001799465 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000429398 SCV001925776 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000429398 SCV001952778 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.