ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1011A>G (p.Glu337=)

dbSNP: rs1555592670
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613817 SCV000726112 likely benign not specified 2017-12-21 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 RCV000758782 SCV000887617 uncertain significance not provided 2017-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016995 SCV001178013 likely benign Hereditary cancer-predisposing syndrome 2018-01-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001476680 SCV001680892 likely benign Hereditary breast ovarian cancer syndrome 2024-01-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001016995 SCV002537675 likely benign Hereditary cancer-predisposing syndrome 2022-03-04 criteria provided, single submitter curation
Color Diagnostics, LLC DBA Color Health RCV001016995 SCV004361084 likely benign Hereditary cancer-predisposing syndrome 2023-03-06 criteria provided, single submitter clinical testing

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