ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)

gnomAD frequency: 0.00536  dbSNP: rs181067717
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177767 SCV000229696 benign not specified 2014-10-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891734 SCV000307963 likely benign FLNC-related disorder 2019-05-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneDx RCV000177767 SCV000523545 benign not specified 2016-02-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001082895 SCV000651078 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000545493 SCV001143944 benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177767 SCV002069861 benign not specified 2020-05-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000545493 SCV002497562 benign not provided 2024-04-01 criteria provided, single submitter clinical testing FLNC: BS1, BS2
Ambry Genetics RCV002345619 SCV002654119 likely benign Cardiovascular phenotype 2023-05-17 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000545493 SCV003799929 benign not provided 2023-11-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000177767 SCV004029315 likely benign not specified 2023-07-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486730 SCV004240655 benign Cardiomyopathy 2023-01-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000177767 SCV001925241 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000545493 SCV001926788 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000177767 SCV001959605 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000545493 SCV001964073 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000545493 SCV002035679 likely benign not provided no assertion criteria provided clinical testing

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