ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6853C>A (p.Pro2285Thr)

gnomAD frequency: 0.00001  dbSNP: rs1455006748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557922 SCV001779772 uncertain significance not provided 2020-11-23 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 supports that this missense variant does not alter protein structure/function
Invitae RCV002570718 SCV003482334 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-08 criteria provided, single submitter clinical testing

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