Submissions for variant NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)

dbSNP: rs374295965

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000462684	SCV000543691	likely benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000996069	SCV000716324	likely benign	not provided	2020-12-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000996069	SCV001150532	uncertain significance	not provided	2018-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418357	SCV002721755	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-04-22	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.
Molecular Oncology - Human Genetics Lab, University of Sao Paulo	RCV001843519	SCV002103106	uncertain significance	Hepatoblastoma		no assertion criteria provided	research