ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.3624G>A (p.Ala1208=) (rs35281128)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711681 SCV000842068 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000117070 SCV000519422 benign not specified 2016-03-25 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.
Genetic Services Laboratory, University of Chicago RCV000117070 SCV000151212 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Invitae RCV000552809 SCV000650993 benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2017-08-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117070 SCV000307947 benign not specified criteria provided, single submitter clinical testing

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