ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.6175G>A (p.Val2059Met) (rs201333104)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419321 SCV000527080 likely benign not specified 2017-11-29 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 RCV000527428 SCV000651111 likely benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2018-01-11 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578034 SCV000679850 likely benign Myopathy, distal, 4 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578087 SCV000679851 likely benign Myofibrillar myopathy, filamin C-related 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577974 SCV000679852 likely benign Cardiomyopathy, familial hypertrophic, 26 2017-08-01 criteria provided, single submitter clinical testing

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