ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3468T>C (p.Asp1156=)

dbSNP: rs864622146
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Total submissions: 3
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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) RCV000494883 SCV000578183 likely benign Breast-ovarian cancer, familial, susceptibility to, 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 RCV000205110 SCV000259461 likely benign Hereditary breast ovarian cancer syndrome 2023-04-08 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258828 SCV002538212 likely benign Hereditary cancer-predisposing syndrome 2021-10-05 criteria provided, single submitter curation

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