Submissions for variant NM_007294.4(BRCA1):c.*1327G>A

gnomAD frequency: 0.00009  dbSNP: rs184237074

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000255969	SCV000321094	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2016-09-28	reviewed by expert panel	curation	Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0399 (South Asian), derived from 1000 genomes (2013-05-02).
Illumina Laboratory Services, Illumina	RCV000255969	SCV000403031	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2018-09-12	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.
GeneDx	RCV001571956	SCV001796521	likely benign	not provided	2019-09-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820798	SCV002069368	benign	not specified	2019-11-12	criteria provided, single submitter	clinical testing