ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.909T>G (p.Ser303=) (rs757430441)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215589 SCV000275164 likely benign Hereditary cancer-predisposing syndrome 2015-04-09 criteria provided, single submitter clinical testing
Color RCV000215589 SCV000684024 likely benign Hereditary cancer-predisposing syndrome 2016-08-30 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500728 SCV000591718 likely benign not specified 2014-08-08 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495256 SCV000578822 likely benign Breast-ovarian cancer, familial 2 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/).
Illumina Clinical Services Laboratory,Illumina RCV000200243 SCV000383618 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366189 SCV000383619 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000200243 SCV000253057 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-23 criteria provided, single submitter clinical testing

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