ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.549A>G (p.Ser183=)

dbSNP: rs1597369559
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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 RCV001185603 SCV001351854 likely benign Hereditary cancer-predisposing syndrome 2019-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001481908 SCV001686266 likely benign Li-Fraumeni syndrome 2024-12-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001185603 SCV002582572 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290491 SCV002582874 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001185603 SCV002651020 likely benign Hereditary cancer-predisposing syndrome 2017-12-07 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.
All of Us Research Program, National Institutes of Health RCV001481908 SCV004823788 likely benign Li-Fraumeni syndrome 2023-05-15 criteria provided, single submitter clinical testing

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