ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.1519G>A (p.Gly507Arg) (rs189525930)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727134 SCV000565015 benign not provided 2019-08-26 criteria provided, single submitter clinical testing Has not been previously published in association with FLNC-related disorders to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 418215; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26555887)
Invitae RCV001084196 SCV000650907 likely benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727134 SCV000706047 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000727134 SCV001923554 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000727134 SCV001929972 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000727134 SCV001954219 likely benign not provided no assertion criteria provided clinical testing

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