ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1866G>T (p.Ala622=)

dbSNP: rs1800064
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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) RCV000111701 SCV000578100 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 RCV002054873 SCV002358412 likely benign Hereditary breast ovarian cancer syndrome 2021-02-12 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111701 SCV000144204 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2000-01-01 no assertion criteria provided clinical testing

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