ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1390+3G>A (rs148912524)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081764 SCV000288174 benign Baller-Gerold syndrome 2020-12-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000382176 SCV000344543 likely benign not specified 2016-08-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000230921 SCV001155572 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000230921 SCV001915271 benign not provided 2019-07-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29220673)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000230921 SCV001798972 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000230921 SCV001807152 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000230921 SCV001928682 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000230921 SCV001952224 likely benign not provided no assertion criteria provided clinical testing

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