ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge and "likely pathogenic" from Quest Diagnostics Nichols Institute San Juan Capistrano

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: 2
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer) rs879255306
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs) rs879255283

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