ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.74+38C>G

gnomAD frequency: 0.65950  dbSNP: rs1642785
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250671 SCV000305120 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812053 SCV000605415 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580249 SCV000686765 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520662 SCV001729823 benign Li-Fraumeni syndrome 2025-02-03 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225407 SCV002505088 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000580249 SCV002582433 benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002288616 SCV002583095 benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002288616 SCV004015622 benign Li-Fraumeni syndrome 1 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000250671 SCV004026699 benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812053 SCV005251493 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000250671 SCV000692102 likely benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000250671 SCV001906144 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000250671 SCV001955423 benign not specified no assertion criteria provided clinical testing

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