ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3337G>C (p.Gly1113Arg) (rs35101495)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121953 SCV000226925 benign not specified 2015-06-01 criteria provided, single submitter clinical testing
ITMI RCV000121953 SCV000086160 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000226215 SCV000288264 benign Baller-Gerold syndrome 2017-12-22 criteria provided, single submitter clinical testing

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