ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.2733G>A (p.Lys911=) (rs374135903)

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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 RCV000733039 SCV000861053 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Invitae RCV001089435 SCV001017189 likely benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2020-10-26 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV001700300 SCV001919104 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000733039 SCV001959882 likely benign not provided no assertion criteria provided clinical testing

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