ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3062G>A (p.Arg1021Gln) (rs34666647)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000121948 SCV000248689 uncertain significance not specified 2015-07-27 criteria provided, single submitter clinical testing
Invitae RCV001079354 SCV000288252 benign Baller-Gerold syndrome 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121948 SCV000332632 likely benign not specified 2016-06-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000232650 SCV001155568 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
ITMI RCV000121948 SCV000086155 not provided not specified 2013-09-19 no assertion provided reference population

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