Submissions for variant NM_001458.5(FLNC):c.3055G>A (p.Gly1019Ser)

dbSNP: rs200864007

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000649217	SCV000771042	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-12-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001579748	SCV001812218	likely benign	not provided	2020-09-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002449073	SCV002752933	likely benign	Cardiovascular phenotype	2022-03-11	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, Amsterdam University Medical Center	RCV001579748	SCV001808379	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001579748	SCV001918339	uncertain significance	not provided		no assertion criteria provided	clinical testing