Submissions for variant NM_001458.5(FLNC):c.2889G>A (p.Pro963=)

gnomAD frequency: 0.00212  dbSNP: rs191892345

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703747	SCV000523024	benign	not provided	2020-10-27	criteria provided, single submitter	clinical testing
Invitae	RCV000526571	SCV000650962	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
Ambry Genetics	RCV002436280	SCV002751307	likely benign	Cardiovascular phenotype	2018-12-28	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.
CeGaT Center for Human Genetics Tuebingen	RCV001703747	SCV004010723	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000421903	SCV004029323	benign	not specified	2023-07-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001703747	SCV004563238	benign	not provided	2023-11-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922762	SCV004748648	benign	FLNC-related disorder	2019-06-14	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000421903	SCV001919373	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000421903	SCV001927209	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001703747	SCV001969638	likely benign	not provided		no assertion criteria provided	clinical testing