ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1797T>C (p.Asn599=) (rs756211343)

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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) RCV000494763 SCV000578409 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 RCV000163811 SCV000214395 likely benign Hereditary cancer-predisposing syndrome 2016-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000417993 SCV000519563 likely benign not specified 2016-07-28 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 RCV000460951 SCV000560215 likely benign not provided 2018-10-31 criteria provided, single submitter clinical testing
Color RCV000163811 SCV000682985 likely benign Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing
Counsyl RCV000494763 SCV000785090 likely benign Breast-ovarian cancer, familial 1 2017-04-11 criteria provided, single submitter clinical testing
Mendelics RCV000494763 SCV001140595 benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing

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