ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2686dup (p.Ser896fs) (rs80357636)

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Total submissions: 5
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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) RCV000077113 SCV000299812 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000165785 SCV000216530 pathogenic Hereditary cancer-predisposing syndrome 2014-08-27 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077113 SCV000325432 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000077113 SCV000746299 pathogenic Breast-ovarian cancer, familial 1 2017-12-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077113 SCV000108910 pathogenic Breast-ovarian cancer, familial 1 2007-12-06 no assertion criteria provided clinical testing

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