ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.1600G>A (p.Glu534Lys) (rs201905890)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173740 SCV000224888 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Invitae RCV001085177 SCV000650911 likely benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2020-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000173740 SCV001960516 benign not provided 2019-10-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27296017, 28008999)
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000173740 SCV001929678 likely benign not provided no assertion criteria provided clinical testing

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