ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.212A>G (p.Glu71Gly) (rs34642881)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000121959 SCV000310032 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121959 SCV000331302 benign not specified 2016-03-23 criteria provided, single submitter clinical testing
Invitae RCV000462087 SCV000557745 benign Baller-Gerold syndrome 2017-08-10 criteria provided, single submitter clinical testing
ITMI RCV000121959 SCV000086166 not provided not specified 2013-09-19 no assertion provided reference population

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