ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge and "uncertain significance" from Sharing Clinical Reports Project (SCRP)

Minimum review status of the submission from Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge: Collection method of the submission from Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438

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