Submissions for variant NM_001110556.2(FLNA):c.2454C>T (p.Ala818=)

gnomAD frequency: 0.00014  dbSNP: rs374672498

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001698316	SCV000533690	likely benign	not provided	2020-10-09	criteria provided, single submitter	clinical testing
Invitae	RCV000873726	SCV001015779	likely benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2023-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002451043	SCV002736837	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-04-21	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003987538	SCV004803575	likely benign	not specified	2024-01-22	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001698316	SCV002037500	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001698316	SCV002038159	likely benign	not provided		no assertion criteria provided	clinical testing