ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4422T>C (p.Ala1474=) (rs756281673)

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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) RCV000409866 SCV000578161 likely benign Breast-ovarian cancer, familial 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 RCV000165209 SCV000215921 likely benign Hereditary cancer-predisposing syndrome 2014-08-04 criteria provided, single submitter clinical testing
Counsyl RCV000409866 SCV000488954 likely benign Breast-ovarian cancer, familial 1 2016-07-25 criteria provided, single submitter clinical testing
Invitae RCV000528974 SCV000635976 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-18 criteria provided, single submitter clinical testing
Color RCV000165209 SCV000683183 likely benign Hereditary cancer-predisposing syndrome 2016-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000609487 SCV000730647 likely benign not specified 2017-11-22 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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