ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.817G>A (p.Ala273Thr)

gnomAD frequency: 0.00063  dbSNP: rs34103564
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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 RCV000229996 SCV000288291 likely benign Baller-Gerold syndrome 2024-01-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255336 SCV002528363 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-07 criteria provided, single submitter curation
Revvity Omics, Revvity RCV003129815 SCV003813804 uncertain significance not provided 2020-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532905 SCV004743908 likely benign RECQL4-related disorder 2022-07-21 criteria provided, single submitter 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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