ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.7614G>T (p.Leu2538Phe) (rs180834558)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514907 SCV000610859 likely benign not provided 2017-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000603544 SCV000725715 likely benign not specified 2017-12-19 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 RCV000539931 SCV000651172 benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2017-11-27 criteria provided, single submitter clinical testing

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