ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6714C>T (p.Thr2238=)

gnomAD frequency: 0.00143  dbSNP: rs10268251
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080330 SCV000651130 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597579 SCV000705067 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
GeneDx RCV000597579 SCV001824480 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26582918)
Ambry Genetics RCV002367920 SCV002665029 benign Cardiovascular phenotype 2019-04-25 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486881 SCV004240672 benign Cardiomyopathy 2022-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915597 SCV004735948 benign FLNC-related disorder 2019-05-21 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 RCV001729638 SCV001979148 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000597579 SCV001980312 likely benign not provided no assertion criteria provided clinical testing

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