ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.135-20T>G (rs80358025)

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Total submissions: 5
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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 and ovarian cancer syndrome 2020-10-14 criteria provided, single submitter clinical testing
Color Health, Inc 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 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

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