Submissions for variant NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)

gnomAD frequency: 0.00140  dbSNP: rs200660642

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724601	SCV000225820	uncertain significance	not provided	2015-03-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000192550	SCV000247389	benign	not specified	2016-03-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000192550	SCV000250326	benign	not specified	2014-09-11	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080648	SCV000556069	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000724601	SCV000603749	benign	not provided	2023-05-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004020068	SCV000738405	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-09-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659658	SCV000781501	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000724601	SCV001143937	benign	not provided	2018-12-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000192550	SCV004029217	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000724601	SCV001808937	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724601	SCV001929883	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724601	SCV001972655	likely benign	not provided		no assertion criteria provided	clinical testing