ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9564T>C (p.Asp3188=) (rs398122616)

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Total submissions: 5
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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) RCV000495408 SCV000579040 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/).
Ambry Genetics RCV000217109 SCV000275139 likely benign Hereditary cancer-predisposing syndrome 2015-04-16 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500163 SCV000592293 likely benign not specified 2012-11-14 criteria provided, single submitter clinical testing
Invitae RCV000534907 SCV000635750 likely benign Hereditary breast and ovarian cancer syndrome 2017-05-15 criteria provided, single submitter clinical testing
Color RCV000217109 SCV000684072 likely benign Hereditary cancer-predisposing syndrome 2017-06-14 criteria provided, single submitter clinical testing

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