ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5332+7G>T (rs773655919)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV000583959 SCV000688560 likely benign Hereditary cancer-predisposing syndrome 2017-06-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590625 SCV000699238 uncertain significance not provided 2016-02-08 criteria provided, single submitter clinical testing Variant summary: This c.5332+7G>T variant affects a non-conserved nucleotide, resulting in intronic change. Although 5/5 splice-site tools via Alamut predict that this variant does not affect normal splicing, ESEfinder predicts activation of an ESE site. This variant was found in 3/120656 control chromosomes from the broad and large populations from ExAC at a frequency of 0.0000249, which does not exceed maximal expected frequency of a pathogenic allele (0.0010005) in this gene. The variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories, nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information, the lack of functional studies and a very low frequency in general population, the variant has currently been classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV001087837 SCV001076049 likely benign Hereditary breast and ovarian cancer syndrome 2020-07-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590625 SCV001470397 likely benign not provided 2020-08-21 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV001073052 SCV001238540 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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