Submissions for variant NM_000059.4(BRCA2):c.7008-9C>T

dbSNP: rs186220967

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000526918	SCV000635553	likely benign	Hereditary breast ovarian cancer syndrome	2023-12-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000779949	SCV000916897	uncertain significance	not specified	2018-01-22	criteria provided, single submitter	clinical testing	Variant summary: The variant allele was found at a frequency of 4.1e-06 in 245980 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.7008-9C>T in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Color Diagnostics, LLC DBA Color Health	RCV001188391	SCV001355447	likely benign	Hereditary cancer-predisposing syndrome	2015-04-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001591220	SCV001823651	likely benign	not provided	2020-12-18	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001591220	SCV002774121	likely benign	not provided	2021-07-12	criteria provided, single submitter	clinical testing