Submissions for variant NM_001458.5(FLNC):c.5127C>T (p.Pro1709=)

gnomAD frequency: 0.00012  dbSNP: rs540345016

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001091489	SCV001247564	likely benign	not provided	2019-07-01	criteria provided, single submitter	clinical testing
Invitae	RCV001523748	SCV001733518	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-07-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002339394	SCV002644700	benign	Cardiovascular phenotype	2021-12-16	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV001091489	SCV001931919	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001091489	SCV001972891	likely benign	not provided		no assertion criteria provided	clinical testing