ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) (rs202029322)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117042 SCV000151174 uncertain significance not provided 2013-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000117042 SCV000250409 likely benign not provided 2020-10-07 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000117042 SCV000511381 likely benign not provided 2016-09-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001079137 SCV000556070 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618972 SCV000739099 benign Cardiovascular phenotype 2018-04-12 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659655 SCV000781498 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000199806 SCV000856322 likely benign not specified 2017-08-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283465 SCV000883907 likely benign none provided 2020-02-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000117042 SCV000893024 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000117042 SCV001469048 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000117042 SCV001928225 likely benign not provided 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.