Submissions for variant NM_000059.4(BRCA2):c.7397= (p.Val2466=)

gnomAD frequency: 0.02098  dbSNP: rs169547

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000113751	SCV000245109	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2015-01-12	reviewed by expert panel	curation	Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.09553 (African), derived from 1000 genomes (2012-04-30).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080482	SCV000073210	benign	Hereditary breast ovarian cancer syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Michigan Medical Genetics Laboratories, University of Michigan	RCV000113751	SCV000196004	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2016-04-21	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000476057	SCV000541025	benign	Familial cancer of breast	2017-02-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000656618	SCV000602755	benign	not provided	2020-10-20	criteria provided, single submitter	clinical testing
IntelligeneCG	RCV000476057	SCV000611721	benign	Familial cancer of breast	2017-08-18	criteria provided, single submitter	clinical testing
GeneKor MSA	RCV000168597	SCV000693642	benign	not specified	2017-11-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000113751	SCV000743331	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000113751	SCV000744515	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2015-09-21	criteria provided, single submitter	clinical testing
Genetics Program, Instituto Nacional de Cancer	RCV001080482	SCV002515142	benign	Hereditary breast ovarian cancer syndrome	2021-11-01	criteria provided, single submitter	research
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113751	SCV000147074	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2002-05-29	no assertion criteria provided	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000168597	SCV000219391	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000113751	SCV000733298	benign	Breast-ovarian cancer, familial, susceptibility to, 2		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000656618	SCV000778707	benign	not provided	2016-11-28	no assertion criteria provided	clinical testing