ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala) (rs80358528)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160218 SCV000210581 likely benign not specified 2017-09-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000165093 SCV000215800 likely benign Hereditary cancer-predisposing syndrome 2018-10-04 criteria provided, single submitter clinical testing In silico models in agreement (benign)
Invitae RCV000204999 SCV000260479 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768588 SCV000324845 likely benign Breast and/or ovarian cancer 2015-09-20 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000160218 SCV000591817 likely benign not specified 2014-04-11 criteria provided, single submitter clinical testing
Color RCV000165093 SCV000911027 benign Hereditary cancer-predisposing syndrome 2016-06-30 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031379 SCV000053984 benign Breast-ovarian cancer, familial 2 2012-06-22 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031379 SCV000146091 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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