ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3600G>T (p.Gln1200His) (rs56214134)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195317 SCV000076260 benign Hereditary breast and ovarian cancer syndrome 2018-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000173844 SCV000167294 benign not specified 2014-04-18 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 RCV000129741 SCV000184547 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173844 SCV000225003 likely benign not specified 2015-05-06 criteria provided, single submitter clinical testing
Color RCV000129741 SCV000683115 likely benign Hereditary cancer-predisposing syndrome 2015-04-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586556 SCV000699044 benign not provided 2016-03-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586556 SCV000887670 likely benign not provided 2017-10-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112130 SCV000144803 benign Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing

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