Submissions for variant NM_000546.6(TP53):c.994-5T>C

gnomAD frequency: 0.00001  dbSNP: rs375273756

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000529215	SCV000629895	likely benign	Li-Fraumeni syndrome	2024-11-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570977	SCV000672381	likely benign	Hereditary cancer-predisposing syndrome	2020-03-13	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.
Genome-Nilou Lab	RCV000570977	SCV002582218	likely benign	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002289747	SCV002582781	likely benign	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736805	SCV004564547	likely benign	not provided	2023-10-13	criteria provided, single submitter	clinical testing