ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) (rs200130356)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170415 SCV000222844 uncertain significance Periventricular nodular heterotopia 1 2013-03-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193523 SCV000247396 benign not specified 2016-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000193523 SCV000250342 likely benign not specified 2017-10-06 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000193523 SCV000333427 benign not specified 2015-08-11 criteria provided, single submitter clinical testing
Invitae RCV000475968 SCV000556055 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000193523 SCV000603741 likely benign not specified 2017-02-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000193523 SCV000613326 likely benign not specified 2016-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618832 SCV000738376 benign Cardiovascular phenotype 2017-08-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659667 SCV000781510 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716329 SCV000847169 benign History of neurodevelopmental disorder 2017-08-07 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Mendelics RCV000170415 SCV001142099 benign Periventricular nodular heterotopia 1 2019-05-28 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000582185 SCV000692250 uncertain significance Aortic dilatation 2017-05-31 no assertion criteria provided clinical testing

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