ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.285T>G (p.Ser95=)

dbSNP: rs876658696
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219654 SCV000274295 likely benign Hereditary cancer-predisposing syndrome 2015-03-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000425804 SCV000529093 likely benign not specified 2016-06-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000989725 SCV001140268 likely benign Squamous cell carcinoma of the head and neck 2019-05-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000219654 SCV001348332 likely benign Hereditary cancer-predisposing syndrome 2018-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001482417 SCV001686786 likely benign Li-Fraumeni syndrome 2024-12-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000219654 SCV002582261 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002288858 SCV002582922 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001482417 SCV004823822 likely benign Li-Fraumeni syndrome 2023-05-31 criteria provided, single submitter clinical testing

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