ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs)

dbSNP: rs483353092
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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) RCV000112233 SCV000323707 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112233 SCV000325823 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112233 SCV000144947 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2013-02-20 no assertion criteria provided clinical testing

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