ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4803A>G (p.Lys1601=)

dbSNP: rs886037794
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495376 SCV000578270 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University RCV000240772 SCV000265891 uncertain significance Breast neoplasm 2015-11-01 criteria provided, single submitter research
Ambry Genetics RCV000563956 SCV000665842 likely benign Hereditary cancer-predisposing syndrome 2016-05-05 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 RCV000686228 SCV000813737 likely benign Hereditary breast ovarian cancer syndrome 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000842427 SCV000984447 likely benign not provided 2018-04-19 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.
Color Diagnostics, LLC DBA Color Health RCV000563956 SCV001354412 likely benign Hereditary cancer-predisposing syndrome 2019-10-01 criteria provided, single submitter clinical testing

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