Submissions for variant NM_001110556.2(FLNA):c.5934G>A (p.Thr1978=)

gnomAD frequency: 0.00002  dbSNP: rs781836633

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002072295	SCV002470719	likely benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-08-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002359191	SCV002650353	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-06-09	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579992	SCV001809293	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579992	SCV001971280	likely benign	not provided		no assertion criteria provided	clinical testing