ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4563A>C (p.Leu1521=) (rs206075)

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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) RCV000412372 SCV000578949 likely benign Breast-ovarian cancer, familial 2 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 RCV000160224 SCV000210605 benign not specified 2014-06-21 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 RCV000164515 SCV000215167 likely benign Hereditary cancer-predisposing syndrome 2015-06-18 criteria provided, single submitter clinical testing
Invitae RCV000198429 SCV000253016 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-09 criteria provided, single submitter clinical testing
Counsyl RCV000412372 SCV000488764 likely benign Breast-ovarian cancer, familial 2 2016-06-08 criteria provided, single submitter clinical testing
Color RCV000164515 SCV000683629 likely benign Hereditary cancer-predisposing syndrome 2016-06-28 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000164515 SCV000787931 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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