ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr)

gnomAD frequency: 0.00291  dbSNP: rs200502811
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194945 SCV000247406 likely benign not specified 2015-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000726864 SCV000534911 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Invitae RCV001083390 SCV000651184 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
Eurofins Ntd Llc (ga) RCV000726864 SCV000703697 uncertain significance not provided 2017-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415824 SCV002679746 benign Cardiovascular phenotype 2019-01-09 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000194945 SCV004029316 likely benign not specified 2023-07-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486765 SCV004240683 benign Cardiomyopathy 2023-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000726864 SCV002033916 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000194945 SCV002034612 benign not specified no assertion criteria provided clinical testing

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