Submissions for variant NM_000546.6(TP53):c.672+31A>G

gnomAD frequency: 0.00543  dbSNP: rs34949160

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000119922	SCV000305117	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001574567	SCV001801411	likely benign	not provided	2018-06-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327)
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225354	SCV002505071	likely benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000119922	SCV002551014	benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002288607	SCV002582545	likely benign	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002288606	SCV002582847	likely benign	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV002288606	SCV004015626	benign	Li-Fraumeni syndrome 1	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001574567	SCV005218654	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000119922	SCV000084052	not provided	not specified	2013-09-19	no assertion provided	reference population