Submissions for variant NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)

gnomAD frequency: 0.00030  dbSNP: rs200787122

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000444097	SCV000151177	likely benign	not specified	2016-06-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310674	SCV000319778	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-06-04	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.
GeneDx	RCV000444097	SCV000513060	benign	not specified	2015-08-31	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.
Athena Diagnostics	RCV000444097	SCV000613328	benign	not specified	2017-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000444097	SCV000708384	benign	not specified	2017-05-24	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680535	SCV000807944	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861237	SCV001001494	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-17	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705831	SCV001470800	likely benign	not provided	2021-04-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000444097	SCV004029214	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705831	SCV005051410	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	FLNA: BP4, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705831	SCV001926801	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705831	SCV001966758	likely benign	not provided		no assertion criteria provided	clinical testing