Submissions for variant NM_001110556.2(FLNA):c.237G>C (p.Ala79=)

gnomAD frequency: 0.00023  dbSNP: rs200626788

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079688	SCV000111571	uncertain significance	not provided	2017-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079688	SCV000151185	uncertain significance	not provided	2013-10-16	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000259078	SCV000613323	benign	not specified	2019-11-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004019541	SCV000739054	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-03-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000659650	SCV000781493	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089423	SCV001003192	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000259078	SCV001157351	likely benign	not specified	2018-10-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000079688	SCV001907168	benign	not provided	2015-08-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000079688	SCV001928238	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000079688	SCV001970174	likely benign	not provided		no assertion criteria provided	clinical testing