ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5313C>T (p.Pro1771=)

dbSNP: rs1131692076
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495094 SCV000578066 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268126 SCV002550945 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584631 SCV004360119 likely benign Hereditary cancer-predisposing syndrome 2021-10-01 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV000495094 SCV001238110 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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