ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3432G>A (p.Gln1144=) (rs80356922)

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Total submissions: 4
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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) RCV000495276 SCV000577989 benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0021 (Admixed American/Latino), derived from ExAC (2014-12-17).
Ambry Genetics RCV000166931 SCV000217750 likely benign Hereditary cancer-predisposing syndrome 2014-12-30 criteria provided, single submitter clinical testing
Invitae RCV000471051 SCV000560208 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-12 criteria provided, single submitter clinical testing
GeneDx RCV000611620 SCV000724394 likely benign not specified 2017-10-31 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.

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