Submissions for variant NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=)

gnomAD frequency: 0.00054  dbSNP: rs200258756

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000432014	SCV000513056	benign	not specified	2015-06-29	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	RCV001081038	SCV000556032	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
Ambry Genetics	RCV000621357	SCV000739086	benign	Cardiovascular phenotype	2016-05-09	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
Athena Diagnostics Inc	RCV000711670	SCV000842057	benign	not provided	2018-03-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000717245	SCV000848094	benign	History of neurodevelopmental disorder	2016-05-09	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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711670	SCV000885476	benign	not provided	2023-10-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000432014	SCV004029205	benign	not specified	2023-07-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000711670	SCV001806967	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000711670	SCV001926255	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000711670	SCV001969746	likely benign	not provided		no assertion criteria provided	clinical testing