Submissions for variant NM_001110556.2(FLNA):c.3876C>T (p.His1292=)

gnomAD frequency: 0.00060  dbSNP: rs199917719

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176381	SCV000228029	benign	not specified	2015-04-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000176381	SCV000250339	benign	not specified	2014-07-10	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	RCV001080814	SCV000556064	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000176381	SCV000594800	likely benign	not specified	2015-09-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004020094	SCV000738382	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-09-09	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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680540	SCV000807950	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757311	SCV000885481	benign	not provided	2023-11-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757311	SCV004165103	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	FLNA: BP4, BP7, BS2