ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.969C>T (p.Ser323=)

gnomAD frequency: 0.00002  dbSNP: rs745658597
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085187 SCV000288293 benign Baller-Gerold syndrome 2025-01-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730145 SCV000857860 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256158 SCV002528372 likely benign Hereditary cancer-predisposing syndrome 2021-11-01 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004541417 SCV004774349 likely benign RECQL4-related disorder 2024-05-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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