ClinVar Miner

Variants with conflicting interpretations "likely benign" from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) and "benign" from Breast Cancer Information Core (BIC) (BRCA2)

Minimum review status of the submission from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA): Collection method of the submission from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000059.4(BRCA2):c.1218C>G (p.Ala406=) rs276174807 0.00001
NM_000059.4(BRCA2):c.1647G>A (p.Lys549=) rs276174812 0.00001
NM_000059.4(BRCA2):c.2739C>T (p.Asp913=) rs276174829 0.00001
NM_000059.4(BRCA2):c.3675A>G (p.Thr1225=) rs276174835 0.00001
NM_000059.4(BRCA2):c.1074G>T (p.Val358=) rs276174805
NM_000059.4(BRCA2):c.1125C>T (p.Pro375=) rs276174806
NM_000059.4(BRCA2):c.2538A>G (p.Ser846=) rs11571654
NM_000059.4(BRCA2):c.3807T>G (p.Val1269=) rs543304
NM_000059.4(BRCA2):c.5298T>C (p.Asn1766=) rs276174856
NM_000059.4(BRCA2):c.7224A>G (p.Pro2408=) rs276174891
NM_000059.4(BRCA2):c.741C>T (p.Ile247=) rs276174892
NM_000059.4(BRCA2):c.7941A>C (p.Leu2647=) rs276174898

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