Submissions for variant NM_007294.4(BRCA1):c.135-20T>G

dbSNP: rs80358025

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590037	SCV000698851	uncertain significance	not provided	2016-04-18	criteria provided, single submitter	clinical testing	Variant summary: The c.135-20T>G variant affects a non-conserved intronic nucleotide resulting in intronic change at a position not widely known to affect splicing. Mutation Taster predicts benign outcome for this variant. 5/5 in silico tools via Alamut predict the variant not to affect normal splicing. This variant is not found in approximately 98862 control chromosomes from ExAC. It has been reported once in a publication without a strong evidence for causality. One clinical lab/database has classified this variant as a VUS. Because of the absence of sufficient clinical information and the lack of functional studies, the variant has been classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae	RCV001079166	SCV001090593	likely benign	Hereditary breast ovarian cancer syndrome	2023-08-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001176885	SCV001340967	likely benign	Hereditary cancer-predisposing syndrome	2015-02-17	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111859	SCV000144431	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion criteria provided	clinical testing
King Laboratory, University of Washington	RCV001171476	SCV001251391	benign	not specified	2019-09-01	no assertion criteria provided	research