ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3771G>A (p.Glu1257=) (rs1597861430)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000982410 SCV001130425 likely benign not provided 2018-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021097 SCV001182672 likely benign Hereditary cancer-predisposing syndrome 2019-05-15 criteria provided, single submitter clinical testing In silico models in agreement (benign);Rarity in general population databases (dbsnp, esp, 1000 genomes);Synonymous alterations with insufficient evidence to classify as benign
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000982410 SCV001469994 uncertain significance not provided 2020-02-28 criteria provided, single submitter clinical testing
Invitae RCV001429709 SCV001632427 likely benign Hereditary breast and ovarian cancer syndrome 2018-12-12 criteria provided, single submitter clinical testing

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