ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4419T>A (p.Ser1473=) (rs730881455)

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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) RCV000495020 SCV000578043 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/).
GeneDx RCV000159888 SCV000209972 benign not specified 2014-08-11 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.
Ambry Genetics RCV000167202 SCV000218039 likely benign Hereditary cancer-predisposing syndrome 2014-12-11 criteria provided, single submitter clinical testing
Invitae RCV000459193 SCV000560218 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758828 SCV000887693 likely benign not provided 2017-12-15 criteria provided, single submitter clinical testing
Color RCV000167202 SCV000909026 likely benign Hereditary cancer-predisposing syndrome 2017-11-20 criteria provided, single submitter clinical testing

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