ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) (rs201168500)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178548 SCV000230649 benign not specified 2015-06-05 criteria provided, single submitter clinical testing
GeneDx RCV001528657 SCV000522966 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619259 SCV000738442 benign Cardiovascular phenotype 2017-05-31 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
Invitae RCV000640794 SCV000762393 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-09-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718946 SCV000849810 benign History of neurodevelopmental disorder 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287003 SCV001473641 benign none provided 2019-11-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528657 SCV001740772 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001528657 SCV001797419 likely benign not provided no assertion criteria provided clinical testing

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