ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1390+3G>A

gnomAD frequency: 0.00246  dbSNP: rs148912524
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081764 SCV000288174 benign Baller-Gerold syndrome 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000382176 SCV000344543 likely benign not specified 2016-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000230921 SCV001155572 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing RECQL4: BP4, BS2
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)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000230921 SCV002009938 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000382176 SCV002071478 likely benign not specified 2021-04-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257548 SCV002527805 likely benign Hereditary cancer-predisposing syndrome 2020-12-27 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316270 SCV004017296 benign Rothmund-Thomson syndrome type 2 2023-07-07 criteria provided, single submitter clinical testing
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000230921 SCV001952224 likely benign not provided no assertion criteria provided clinical testing

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