ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3833G>A (p.Arg1278Lys)

gnomAD frequency: 0.00004  dbSNP: rs540117605
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649088 SCV000770913 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-25 criteria provided, single submitter clinical testing
GeneDx RCV001771892 SCV001992732 uncertain significance not provided 2019-06-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Revvity Omics, Revvity RCV001771892 SCV003833181 uncertain significance not provided 2019-01-10 criteria provided, single submitter clinical testing

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