ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.5578C>T (p.Arg1860Cys) (rs181067717)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177767 SCV000229696 benign not specified 2014-10-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000177767 SCV000307963 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000177767 SCV000523545 benign not specified 2016-02-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001082895 SCV000651078 benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000545493 SCV001143944 benign not provided 2018-11-07 criteria provided, single submitter clinical testing

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