ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser)

gnomAD frequency: 0.00204  dbSNP: rs34371341
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080897 SCV000112799 benign not specified 2013-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000462195 SCV000557728 benign Baller-Gerold syndrome 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001563158 SCV001786048 likely benign not provided 2021-03-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080897 SCV002066140 benign not specified 2021-05-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256042 SCV002528354 likely benign Hereditary cancer-predisposing syndrome 2021-05-29 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV001563158 SCV005222976 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004955270 SCV005492415 likely benign Inborn genetic diseases 2024-10-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ITMI RCV000080897 SCV000086176 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004529848 SCV004742051 benign RECQL4-related disorder 2019-09-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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