ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3129T>C (p.Asn1043=)

dbSNP: rs1555588339
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548170 SCV000635886 likely benign Hereditary breast ovarian cancer syndrome 2022-11-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185479 SCV001351690 likely benign Hereditary cancer-predisposing syndrome 2018-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001799677 SCV002044261 uncertain significance not provided 2021-06-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this variant does not alter splicing; Also known as 3248T>C; This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV001185479 SCV002607692 likely benign Hereditary cancer-predisposing syndrome 2021-08-09 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.

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