Submissions for variant NM_001458.5(FLNC):c.3765C>A (p.Val1255=)

dbSNP: rs556428588

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000551475	SCV000651001	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001692180	SCV001911017	benign	not provided	2018-09-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350338	SCV002620373	benign	Cardiovascular phenotype	2020-03-04	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.
CeGaT Center for Human Genetics Tuebingen	RCV001692180	SCV002821852	benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	FLNC: PP3, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703202	SCV001929682	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001703202	SCV001969601	benign	not specified		no assertion criteria provided	clinical testing