ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His)

gnomAD frequency: 0.00053  dbSNP: rs34236392
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462829 SCV000545998 likely benign Baller-Gerold syndrome 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766000 SCV000897432 uncertain significance Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200491 SCV001371466 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001200491 SCV002009899 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821246 SCV002067718 uncertain significance not specified 2018-12-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001200491 SCV004236569 uncertain significance not provided 2023-06-09 criteria provided, single submitter clinical testing

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