Submissions for variant NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)

gnomAD frequency: 0.00081  dbSNP: rs200130356

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Claritas Genomics	RCV000170415	SCV000222844	uncertain significance	Heterotopia, periventricular, X-linked dominant	2013-03-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000193523	SCV000247396	benign	not specified	2016-08-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001579665	SCV000250342	benign	not provided	2020-05-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21836662, 28074886)
Eurofins Ntd Llc (ga)	RCV000193523	SCV000333427	benign	not specified	2015-08-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000475968	SCV000556055	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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001579665	SCV000603741	likely benign	not provided	2023-10-12	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000193523	SCV000613326	likely benign	not specified	2016-11-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004020018	SCV000738376	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-08-07	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	RCV000659667	SCV000781510	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000170415	SCV001142099	benign	Heterotopia, periventricular, X-linked dominant	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579665	SCV003917831	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FLNA: BP4, BS1, BS2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV003313943	SCV004014037	likely benign	Thrombocytopenia		criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000193523	SCV004122598	likely benign	not specified	2023-10-09	criteria provided, single submitter	clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000582185	SCV000692250	uncertain significance	Aortic dilatation	2017-05-31	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579665	SCV001808083	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579665	SCV001932341	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001579665	SCV001957490	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579665	SCV001971252	likely benign	not provided		no assertion criteria provided	clinical testing