ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1621-15C>T

gnomAD frequency: 0.37577  dbSNP: rs4244611
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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) RCV000080886 SCV000112788 benign not specified 2014-05-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080886 SCV000310029 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000080886 SCV000540162 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Genome-Nilou Lab RCV001795116 SCV002033509 benign Baller-Gerold syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795115 SCV002033510 benign Rapadilino syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795117 SCV002033511 benign Rothmund-Thomson syndrome type 2 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001795116 SCV002343902 benign Baller-Gerold syndrome 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001795117 SCV004017268 benign Rothmund-Thomson syndrome type 2 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712026 SCV005270329 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000080886 SCV001739906 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000080886 SCV001957522 benign not specified no assertion criteria provided clinical testing

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