Submissions for variant NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)

gnomAD frequency: 0.00698  dbSNP: rs113510895

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079709	SCV000111592	benign	not specified	2012-11-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079709	SCV000151200	benign	not specified	2015-02-10	criteria provided, single submitter	clinical testing
Claritas Genomics	RCV000079709	SCV000222860	likely benign	not specified	2013-09-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000079709	SCV000250353	benign	not specified	2014-06-17	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.
Invitae	RCV001084164	SCV000261525	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079709	SCV000306626	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000205572	SCV000603738	benign	not provided	2023-11-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004019549	SCV000738350	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-04-09	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.
Athena Diagnostics	RCV000205572	SCV001143940	benign	not provided	2019-07-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000079709	SCV003929158	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079709	SCV001739804	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000079709	SCV001808801	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000079709	SCV001970049	benign	not specified		no assertion criteria provided	clinical testing