ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.597C>T (p.Ala199=)

gnomAD frequency: 0.00124  dbSNP: rs143942649
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000244929 SCV000227232 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891716 SCV000307968 benign FLNC-related disorder 2023-03-28 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).
GeneDx RCV001532118 SCV000522734 benign not provided 2018-03-13 criteria provided, single submitter clinical testing
Invitae RCV000530980 SCV000651097 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
Athena Diagnostics RCV000244929 SCV001475126 benign not specified 2019-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532118 SCV001747530 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7
Ambry Genetics RCV002354448 SCV002657079 benign Cardiovascular phenotype 2019-03-28 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.
Fulgent Genetics, Fulgent Genetics RCV002485136 SCV002801292 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2022-01-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486726 SCV004240664 benign Cardiomyopathy 2022-11-17 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000244929 SCV001919147 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001532118 SCV001928322 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001532118 SCV001957378 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001532118 SCV001964164 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000244929 SCV002035866 benign not specified no assertion criteria provided clinical testing

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