ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.441+9A>G (rs1555596273)

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Total submissions: 3
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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 RCV000586789 SCV000699147 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing Variant summary: The c.441+9A>G in BRCA1 gene alters a non-conservative nucleotide and mutation Taster predicts a benign outcome. 1/5 in silico tools via Alamut predict this variant to have a moderate effect on splicing pattern, however these predictions have yet to be confirmed by functional studies. The variant is absent from the control population dataset of ExAC and has not, to our knowledge, been reported in affected patients via publication and/or reputable databases/clinical laboratories. Taken together, this variant has been classified as a VUS, until more information becomes available.
Invitae RCV000586789 SCV001124876 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing
Invitae RCV001418017 SCV001620238 likely benign Hereditary breast and ovarian cancer syndrome 2020-04-08 criteria provided, single submitter clinical testing

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