Submissions for variant NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)

gnomAD frequency: 0.00116  dbSNP: rs376992044

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177935	SCV000229897	likely benign	not specified	2015-04-09	criteria provided, single submitter	clinical testing
Invitae	RCV000541382	SCV000651115	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001573292	SCV000716209	benign	not provided	2020-09-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362909	SCV002657247	likely benign	Cardiovascular phenotype	2019-02-04	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.
Fulgent Genetics, Fulgent Genetics	RCV002503687	SCV002811903	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26	2021-07-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573292	SCV004042319	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7, BS1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486732	SCV004240670	benign	Cardiomyopathy	2023-02-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000177935	SCV004241480	benign	not specified	2023-12-03	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573292	SCV001798941	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000177935	SCV001926114	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000177935	SCV001927594	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000177935	SCV001951397	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573292	SCV001967545	likely benign	not provided		no assertion criteria provided	clinical testing