ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.4581-5T>A (rs368660628)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080589 SCV000651035 benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000599018 SCV000710005 benign not provided 2020-02-05 criteria provided, single submitter clinical testing 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.; Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 472071; Landrum et al., 2016)
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000599018 SCV001929432 likely benign not provided no assertion criteria provided clinical testing

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