ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4599T>C (p.Asp1533=)

dbSNP: rs1131692095
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Total submissions: 2
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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) RCV000495177 SCV000578155 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 RCV001503766 SCV001708624 likely benign Hereditary breast ovarian cancer syndrome 2018-05-04 criteria provided, single submitter clinical testing

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