Submissions for variant NM_000546.6(TP53):c.543C>T (p.Arg181=)

dbSNP: rs876659582

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000213990	SCV000276197	likely benign	Hereditary cancer-predisposing syndrome	2015-06-04	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001423942	SCV001626532	likely benign	Li-Fraumeni syndrome	2019-09-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000213990	SCV002582574	likely benign	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002288874	SCV002582875	likely benign	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000213990	SCV004360001	likely benign	Hereditary cancer-predisposing syndrome	2023-04-11	criteria provided, single submitter	clinical testing