Submissions for variant NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn)

gnomAD frequency: 0.00128  dbSNP: rs201093148

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000514558	SCV000250419	likely benign	not provided	2021-06-03	criteria provided, single submitter	clinical testing
Invitae	RCV001080454	SCV000287139	likely benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-25	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514558	SCV000609936	likely benign	not provided	2017-05-04	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000196132	SCV000709244	benign	not specified	2017-06-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000196132	SCV001157353	likely benign	not specified	2018-08-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408868	SCV002714096	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-20	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.