ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.543G>A (p.Gln181=) (rs34159914)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178889 SCV000231062 benign not specified 2015-05-13 criteria provided, single submitter clinical testing
Invitae RCV001082580 SCV000288286 benign Baller-Gerold syndrome 2020-11-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000178889 SCV000596736 likely benign not specified 2017-03-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000232762 SCV001155577 likely benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000232762 SCV001927918 likely benign not provided no assertion criteria provided clinical testing

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