ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4833C>T (p.Ala1611=) (rs80356842)

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Total submissions: 4
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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) RCV000112409 SCV000578236 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/).
Color Health, Inc RCV001176275 SCV001340169 likely benign Hereditary cancer-predisposing syndrome 2018-12-14 criteria provided, single submitter clinical testing
Invitae RCV001495911 SCV001700601 likely benign Hereditary breast and ovarian cancer syndrome 2019-05-16 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112409 SCV000145192 uncertain significance Breast-ovarian cancer, familial 1 1998-08-26 no assertion criteria provided clinical testing

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