ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2428A>T (p.Asn810Tyr) (rs28897682)

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Total submissions: 10
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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) RCV000077518 SCV000244318 benign Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000000000000233
Invitae RCV000167805 SCV000075849 benign Hereditary breast and ovarian cancer syndrome 2017-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000047836 SCV000167278 benign not specified 2014-02-26 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 RCV000162593 SCV000213011 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000077518 SCV000220977 likely benign Breast-ovarian cancer, familial 1 2014-12-22 criteria provided, single submitter literature only
Color RCV000162593 SCV000683035 benign Hereditary cancer-predisposing syndrome 2015-12-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000047836 SCV000806915 benign not specified 2017-10-12 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077518 SCV000109319 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077518 SCV000144433 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Pathway Genomics RCV000077518 SCV000187726 benign Breast-ovarian cancer, familial 1 2014-12-10 no assertion criteria provided clinical testing

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