ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3184C>T (p.Arg1062Trp)

gnomAD frequency: 0.00003  dbSNP: rs199658221
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231692 SCV000288260 likely benign Baller-Gerold syndrome 2024-01-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255301 SCV002528314 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-20 criteria provided, single submitter curation
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153400 SCV003843695 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542911 SCV004774202 likely benign RECQL4-related disorder 2022-02-03 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).
ITMI RCV000121946 SCV000086153 not provided not specified 2013-09-19 no assertion provided reference population

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