ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3807G>A (p.Val1269=)

dbSNP: rs1585161170
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001486250 SCV001690705 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2018-10-07 criteria provided, single submitter clinical testing
GeneDx RCV000975496 SCV001993888 uncertain significance not provided 2019-05-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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