Submissions for variant NM_001110556.2(FLNA):c.1429+8C>T

gnomAD frequency: 0.00156  dbSNP: rs202181557

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079687	SCV000111570	benign	not specified	2013-04-09	criteria provided, single submitter	clinical testing
Claritas Genomics	RCV000170402	SCV000222827	uncertain significance	Heterotopia, periventricular, X-linked dominant	2014-12-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000079687	SCV000250370	benign	not specified	2014-06-17	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	RCV000231754	SCV000287138	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573339	SCV000603737	benign	not provided	2020-12-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390234	SCV002701027	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-08-30	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.
Genetic Services Laboratory, University of Chicago	RCV000079687	SCV000151181	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573339	SCV001799064	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573339	SCV001807377	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573339	SCV001932474	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000079687	SCV001966064	benign	not specified		no assertion criteria provided	clinical testing