ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.81-20C>T (rs80358039)

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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 RCV000587753 SCV000699311 uncertain significance not provided 2016-06-20 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.81-20C>T variant involves the alteration of a non-conserved intronic nucleotide with 5/5 splice prediction tools predicting no significant impact on normal splicing, which is further supported by a functional assay (Whiley_2011). The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP). The variant of interest has been reported in affected individuals via publications, although with limited information (ie lack of co-occurrence and cosegregation data). The variant of interest has been classified as "uncertain significance" by a reputable database. Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as a "VUS-possibly benign," until additional information becomes available.
Counsyl RCV000111715 SCV000785379 likely benign Breast-ovarian cancer, familial 1 2017-07-18 criteria provided, single submitter clinical testing
Invitae RCV001085521 SCV001062487 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-08 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111715 SCV000144225 uncertain significance Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000111715 SCV001242290 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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