ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp)

gnomAD frequency: 0.00371  dbSNP: rs36078464
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000121952 SCV000226926 benign not specified 2015-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081415 SCV000288263 benign Baller-Gerold syndrome 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000121952 SCV000310037 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000232515 SCV001155567 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing RECQL4: BP4, BS2
GeneDx RCV000232515 SCV001868615 benign not provided 2019-07-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 28202063)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000232515 SCV002009900 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256071 SCV002528322 benign Hereditary cancer-predisposing syndrome 2020-10-30 criteria provided, single submitter curation
ITMI RCV000121952 SCV000086159 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000232515 SCV001799585 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000232515 SCV001807348 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000232515 SCV001972665 likely benign not provided no assertion criteria provided clinical testing

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