ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.783-11A>G

gnomAD frequency: 0.00001  dbSNP: rs771914358
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582124 SCV000691644 likely benign Hereditary cancer-predisposing syndrome 2017-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001619804 SCV001846816 benign not provided 2015-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061961 SCV002338561 likely benign Li-Fraumeni syndrome 2024-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000582124 SCV002582522 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002289873 SCV002582824 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002061961 SCV004822656 likely benign Li-Fraumeni syndrome 2023-09-04 criteria provided, single submitter clinical testing

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