ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3463G>C (p.Asp1155His) (rs80357484)

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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) RCV000112102 SCV000244341 benign Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000714
Color Health, Inc RCV000775158 SCV000909303 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-16 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112102 SCV000144770 uncertain significance Breast-ovarian cancer, familial 1 2003-11-25 no assertion criteria provided clinical testing

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