ClinVar Miner

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

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000527428 SCV000527080 benign not provided 2020-01-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26555887, 28356264, 27296017)
Invitae RCV001083558 SCV000651111 likely benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2020-12-06 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
Athena Diagnostics Inc RCV000527428 SCV001143946 benign not provided 2018-12-28 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000527428 SCV001923808 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000527428 SCV001932570 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000527428 SCV001955675 likely benign not provided no assertion criteria provided clinical testing

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