Submissions for variant NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)

gnomAD frequency: 0.00118  dbSNP: rs199853721

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000192632	SCV000232140	benign	not specified	2017-04-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000192632	SCV000247386	uncertain significance	not specified	2014-07-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000192632	SCV000250366	benign	not specified	2014-11-05	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	RCV001082645	SCV000287135	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244567	SCV000319473	likely benign	Cardiovascular phenotype	2014-10-08	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000192632	SCV000613321	benign	not specified	2017-03-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000720675	SCV000851554	likely benign	History of neurodevelopmental disorder	2014-10-08	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.
CeGaT Center for Human Genetics Tuebingen	RCV000762689	SCV000893025	likely benign	not provided	2018-12-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000762689	SCV001158013	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000192632	SCV004029210	benign	not specified	2023-07-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000762689	SCV001808180	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000762689	SCV001930310	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000762689	SCV001969077	likely benign	not provided		no assertion criteria provided	clinical testing