ClinVar Miner

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

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Total submissions: 15
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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 RCV001579665 SCV000250342 benign not provided 2020-05-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21836662, 28074886)
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
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579665 SCV001808083 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579665 SCV001932341 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001579665 SCV001957490 likely benign not provided no assertion criteria provided clinical testing

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