ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val) (rs80357095)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166323 SCV000217109 likely benign Hereditary cancer-predisposing syndrome 2019-02-28 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
GeneDx RCV000428940 SCV000533862 likely benign not specified 2018-02-09 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586073 SCV000605886 uncertain significance not provided 2020-07-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586073 SCV000699158 uncertain significance not provided 2016-01-04 criteria provided, single submitter clinical testing
Color Health, Inc RCV000166323 SCV001342847 benign Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing
Invitae RCV001432824 SCV001635603 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077577 SCV000109380 likely benign Breast-ovarian cancer, familial 1 2012-08-03 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077577 SCV000145122 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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