Submissions for variant NM_001458.5(FLNC):c.6720G>A (p.Gln2240=)

gnomAD frequency: 0.00018  dbSNP: rs371391208

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000526740	SCV000651131	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-12-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001557711	SCV001779522	likely benign	not provided	2019-09-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002367921	SCV002665046	likely benign	Cardiovascular phenotype	2019-12-11	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, University Medical Center Utrecht	RCV001557711	SCV002034203	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001557711	SCV002036572	likely benign	not provided		no assertion criteria provided	clinical testing