ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.4947C>T (p.Gly1649=) (rs201069454)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243782 SCV000307958 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000243782 SCV000344362 likely benign not specified 2016-08-11 criteria provided, single submitter clinical testing
GeneDx RCV001705355 SCV000519428 benign not provided 2019-12-10 criteria provided, single submitter clinical testing
Invitae RCV000526421 SCV000651048 benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2020-12-04 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000243782 SCV001923605 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000243782 SCV001929770 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000243782 SCV001957567 benign not specified no assertion criteria provided clinical testing

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