Submissions for variant NM_001458.5(FLNC):c.6998-5C>T

gnomAD frequency: 0.00106  dbSNP: rs139030003

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724252	SCV000230582	uncertain significance	not provided	2014-12-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081189	SCV000651147	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000724252	SCV000719133	benign	not provided	2020-04-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362918	SCV002665176	likely benign	Cardiovascular phenotype	2019-03-20	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001795298	SCV004038057	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724252	SCV005093465	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BS1, BS2
Clinical Genetics, Academic Medical Center	RCV001795298	SCV002034350	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724252	SCV002038352	likely benign	not provided		no assertion criteria provided	clinical testing