ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.81-65G>C

gnomAD frequency: 0.00016  dbSNP: rs80358117
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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) RCV000111717 SCV001161600 benign Breast-ovarian cancer, familial, susceptibility to, 1 2019-06-18 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 = 2.46E-08
Breast Cancer Information Core (BIC) (BRCA1) RCV000111717 SCV000144227 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2001-02-15 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001689636 SCV001906074 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001689636 SCV001929076 likely benign not provided no assertion criteria provided clinical testing
BRCAlab, Lund University RCV000111717 SCV004244200 benign Breast-ovarian cancer, familial, susceptibility to, 1 2020-03-02 no assertion criteria provided clinical testing

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