ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2636G>A (p.Arg879His)

gnomAD frequency: 0.00001  dbSNP: rs367997079
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649130 SCV000770955 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-03-09 criteria provided, single submitter clinical testing
GeneDx RCV001756083 SCV001997753 uncertain significance not provided 2020-01-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported as a variant of uncertain significance by another clinical laboratory in ClinVar (ClinVar Variant ID# 539400; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Revvity Omics, Revvity RCV001756083 SCV003833066 uncertain significance not provided 2020-07-14 criteria provided, single submitter clinical testing

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