Submissions for variant NM_032043.3(BRIP1):c.1140+11G>A

gnomAD frequency: 0.00005  dbSNP: rs369153270

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000423409	SCV000512416	likely benign	not specified	2017-07-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV000579834	SCV000684114	likely benign	Hereditary cancer-predisposing syndrome	2015-08-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000410194	SCV001283868	uncertain significance	Fanconi anemia complementation group J	2017-04-28	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002058861	SCV002345924	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2025-01-23	criteria provided, single submitter	clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	RCV005090659	SCV005848155	likely benign	Hereditary breast ovarian cancer syndrome	2024-11-11	criteria provided, single submitter	curation	According to the ACMG SVI adaptation criteria we chose these criteria: BP4 (supporting benign): spliceAI:BRIP1:0.0, BP7 (supporting benign): SpliceAI: unauffällig
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005090659	SCV005913715	likely benign	Hereditary breast ovarian cancer syndrome	2023-10-06	criteria provided, single submitter	clinical testing
Counsyl	RCV000410194	SCV000490039	likely benign	Fanconi anemia complementation group J	2016-10-07	no assertion criteria provided	clinical testing	This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact [e-mail].
Counsyl	RCV005430351	SCV000490040	likely benign	Ovarian cancer	2016-10-07	no assertion criteria provided	clinical testing	This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact [e-mail].