ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)

dbSNP: rs80357298
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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) RCV000111771 SCV000299700 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Counsyl RCV000111771 SCV000785811 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-06 criteria provided, single submitter clinical testing
Invitae RCV001383911 SCV001583239 pathogenic Hereditary breast ovarian cancer syndrome 2021-09-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111771 SCV000144302 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2004-11-25 no assertion criteria provided clinical testing

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