ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6612C>T (p.Pro2204=)

gnomAD frequency: 0.00010  dbSNP: rs375499070
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517950 SCV000613331 likely benign not specified 2016-10-19 criteria provided, single submitter clinical testing
Invitae RCV000527230 SCV000639823 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000517950 SCV001157359 likely benign not specified 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV001548144 SCV001768004 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278861 SCV003994216 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-05-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003960218 SCV004773415 likely benign FLNA-related condition 2020-01-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.