ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5098G>A (p.Gly1700Ser)

gnomAD frequency: 0.00001  dbSNP: rs1264382469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001554970 SCV001776312 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV001882636 SCV002177267 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-30 criteria provided, single submitter clinical testing

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