Submissions for variant NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)

gnomAD frequency: 0.00732  dbSNP: rs35015603

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Claritas Genomics	RCV000117055	SCV000222838	benign	not specified	2012-06-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000117055	SCV000250337	benign	not specified	2015-06-18	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	RCV000757303	SCV000556023	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620290	SCV000738366	benign	Cardiovascular phenotype	2015-06-23	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Ambry Genetics	RCV000717376	SCV000848226	benign	History of neurodevelopmental disorder	2015-06-23	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811964	SCV000885471	benign	not provided	2021-04-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498512	SCV002810237	likely benign	Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1	2021-08-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000117055	SCV004029219	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117055	SCV000151190	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000117055	SCV001809728	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117055	SCV001974168	benign	not specified		no assertion criteria provided	clinical testing