ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5332+13G>T (rs372391060)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000858777 SCV000261835 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000206118 SCV000494407 benign Hereditary breast and ovarian cancer syndrome 2016-03-28 criteria provided, single submitter clinical testing Variant summary: The c.5332+13G>T variant affects a non-conserved intronic nucleotide. One in-silico tool predicts benign outcome for this variant. 4/5 programs in Alamut predict that this variant does not affect normal splicing. this prediction has been confirmed by multiple experimental studies. This variant is found exclusively in 7/66330 European (Non-Finnish) control chromosomes at a frequency of 0.000105533, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0010005). Co-occurrences with pathogenic BRCA1 variants have been reported in three patients (UMD database). In addition, one clinical laboratory classified this variant as benign. Taken together, this variant was classified as benign.
GeneDx RCV000425632 SCV000517288 benign not specified 2015-08-18 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.
Fulgent Genetics,Fulgent Genetics RCV000488127 SCV000575721 likely benign Breast-ovarian cancer, familial 1 2015-08-07 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000425632 SCV000586909 likely benign not specified 2017-04-19 criteria provided, single submitter clinical testing
Color RCV000579488 SCV000683289 likely benign Hereditary cancer-predisposing syndrome 2015-08-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000425632 SCV000806970 benign not specified 2017-05-30 criteria provided, single submitter clinical testing

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