Submissions for variant NM_007294.4(BRCA1):c.-192T>C

gnomAD frequency: 0.00510  dbSNP: rs113323025

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000191525	SCV000244891	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2015-01-12	reviewed by expert panel	curation	Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02033 (African), derived from 1000 genomes (2012-04-30).
Illumina Laboratory Services, Illumina	RCV000191525	SCV000403081	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517430	SCV001725919	benign	Hereditary breast ovarian cancer syndrome	2023-07-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001558032	SCV001779900	likely benign	not provided	2018-06-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30204945, 29236234)
Genetic Services Laboratory, University of Chicago	RCV000499419	SCV002072014	benign	not specified	2021-02-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257489	SCV002538070	benign	Hereditary cancer-predisposing syndrome	2020-09-10	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001558032	SCV004009804	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	BRCA1: BS1, BS2
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000499419	SCV000591222	benign	not specified		no assertion criteria provided	clinical testing	This variant is not expected to have clinical significance because it does not result in an amino acid change, occurs within non-coding exon 1 and was identified by the 1000 genomes project with a frequency of 0.005 (dbSNP ID: rs113323025).
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000499419	SCV001906371	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001558032	SCV001956831	likely benign	not provided		no assertion criteria provided	clinical testing