Submissions for variant NM_001110556.2(FLNA):c.543G>A (p.Pro181=)

gnomAD frequency: 0.00005  dbSNP: rs201486643

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251998	SCV000306623	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313978	SCV000739051	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-01-15	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.
Invitae	RCV000640793	SCV000762392	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2023-09-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001582815	SCV001819856	likely benign	not provided	2020-10-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001582815	SCV001932038	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001582815	SCV001975519	likely benign	not provided		no assertion criteria provided	clinical testing