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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121959 SCV000331302 benign not specified 2016-03-23 criteria provided, single submitter clinical testing
ITMI RCV000121959 SCV000086166 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000462087 SCV000557745 benign Baller-Gerold syndrome 2017-08-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121959 SCV000310032 benign not specified criteria provided, single submitter clinical testing

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