Submissions for variant NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=)

dbSNP: rs201904661

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176854	SCV000228610	benign	not specified	2015-05-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001704262	SCV000513058	likely benign	not provided	2021-01-18	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000176854	SCV000594799	likely benign	not specified	2015-09-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314623	SCV000739057	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-04-26	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.
Invitae	RCV000640781	SCV000762380	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-28	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680537	SCV000807946	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000176854	SCV001157354	likely benign	not specified	2018-09-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001704262	SCV004165100	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	FLNA: BP4, BP7, BS2