ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.787+917T>G (rs587780795)

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Total submissions: 8
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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) RCV000408996 SCV000578069 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/).
Invitae RCV000123267 SCV000166574 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163987 SCV000214587 likely benign Hereditary cancer-predisposing syndrome 2014-06-18 criteria provided, single submitter clinical testing
Counsyl RCV000408996 SCV000488421 likely benign Breast-ovarian cancer, familial 1 2016-03-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506729 SCV000602734 likely benign not specified 2017-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000506729 SCV000715026 likely benign not specified 2017-11-28 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.
Color RCV000163987 SCV000909367 likely benign Hereditary cancer-predisposing syndrome 2018-08-28 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000163987 SCV000787893 likely benign Hereditary cancer-predisposing syndrome 2017-11-10 no assertion criteria provided clinical testing

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