ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2811G>A (p.Lys937=)

dbSNP: rs876659271
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Total submissions: 7
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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) RCV000410581 SCV000578319 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/).
Ambry Genetics RCV000214395 SCV000275536 likely benign Hereditary cancer-predisposing syndrome 2015-05-10 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.
Counsyl RCV000410581 SCV000489590 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000434529 SCV000531392 likely benign not specified 2016-08-29 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.
Invitae RCV000524572 SCV000635866 likely benign Hereditary breast ovarian cancer syndrome 2023-11-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000214395 SCV000688401 likely benign Hereditary cancer-predisposing syndrome 2017-10-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985391 SCV001133535 likely benign not provided 2021-05-13 criteria provided, single submitter clinical testing

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