ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3392G>A (p.Arg1131Lys) (rs201369291)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000271500 SCV000334763 benign not specified 2015-09-15 criteria provided, single submitter clinical testing
Invitae RCV000230186 SCV000288265 benign Baller-Gerold syndrome 2017-12-27 criteria provided, single submitter clinical testing

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