Submissions for variant NM_000546.6(TP53):c.673-4C>G

dbSNP: rs1555525586

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000563494	SCV000667210	uncertain significance	Hereditary cancer-predisposing syndrome	2016-12-30	criteria provided, single submitter	clinical testing	The c.673-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 6 in the TP53 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000695775	SCV000824295	likely benign	Li-Fraumeni syndrome	2023-09-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000563494	SCV000913039	uncertain significance	Hereditary cancer-predisposing syndrome	2018-11-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000563494	SCV002582026	uncertain significance	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002289823	SCV002582212	uncertain significance	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing