Submissions for variant NM_001458.5(FLNC):c.5124G>A (p.Ala1708=)

gnomAD frequency: 0.00002  dbSNP: rs764707313

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001707848	SCV000732844	likely benign	not provided	2021-03-25	criteria provided, single submitter	clinical testing
Invitae	RCV002066906	SCV002351873	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002334030	SCV002644695	likely benign	Cardiovascular phenotype	2020-09-18	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	RCV001707848	SCV002033888	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001707848	SCV002034507	likely benign	not provided		no assertion criteria provided	clinical testing