ClinVar Miner

Variants with conflicting interpretations "benign" from ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen and "uncertain significance" from any submitter

Minimum review status of the submission from ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen: Collection method of the submission from ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_000059.4(BRCA2):c.7806-40A>G rs9590939 0.00858
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024 0.00012
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_007294.4(BRCA1):c.301+7G>A rs80358113 0.00006
NM_007294.4(BRCA1):c.81-11del rs273902788 0.00004
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=) rs587782428 0.00002
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00001
NM_000059.4(BRCA2):c.68-7del rs276174878
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly) rs80357190

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