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

gnomAD frequency: 0.00046  dbSNP: rs202029322

Total submissions: 15

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079137	SCV000556070	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313881	SCV000739099	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-04-12	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659655	SCV000781498	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000199806	SCV000856322	likely benign	not specified	2017-08-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000117042	SCV000883907	likely benign	not provided	2023-09-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics 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
Institute of Human Genetics, University Hospital Muenster	RCV004584353	SCV002506427	uncertain significance	See cases	2021-12-09	criteria provided, single submitter	clinical testing	ACMG categories: PM1,PP3
PreventionGenetics, part of Exact Sciences	RCV004529961	SCV004738481	likely benign	FLNA-related disorder	2021-04-22	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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000199806	SCV005076251	likely benign	not specified	2024-04-14	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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117042	SCV001970170	likely benign	not provided		no assertion criteria provided	clinical testing