ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.7947C>T (p.Phe2649=) (rs368849358)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000244124 SCV000524848 likely benign not specified 2017-04-28 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 RCV000542823 SCV000651181 likely benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2017-11-15 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578028 SCV000679853 likely benign Primary dilated cardiomyopathy 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578104 SCV000679854 likely benign Myopathy, distal, 4 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577968 SCV000679855 likely benign Hypertrophic cardiomyopathy 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578026 SCV000679856 likely benign Myofibrillar myopathy, filamin C-related 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578102 SCV000679857 likely benign Cardiomyopathy, familial hypertrophic, 26 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244124 SCV000307976 likely benign not specified 2015-12-30 criteria provided, single submitter clinical testing

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