Variants studied for Breast neoplasm

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
128	6	142	36	2	312

Gene and significance breakdown #

Total genes and gene combinations: 22

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
BRCA2	51	1	76	17	0	144
BRCA1	46	2	33	7	0	88
BRIP1	1	0	17	2	0	20
BRCA1, LOC126862571	9	0	3	2	0	14
BARD1	1	0	5	2	0	7
CHEK2	3	2	2	0	0	7
PALB2	5	0	1	0	0	6
PMS2	0	0	3	0	1	4
TP53	3	1	0	0	0	4
ATM, C11orf65	2	0	1	0	0	3
DICER1	0	0	1	2	0	3
IL2	2	0	0	0	0	2
ATM	0	0	0	0	1	1
CDH1	0	0	0	1	0	1
CFTR	0	0	0	1	0	1
CKS1B, LOC129931529, SHC1	1	0	0	0	0	1
CKS1B, SHC1	1	0	0	0	0	1
GALNT12	0	0	0	1	0	1
GEN1	0	0	0	1	0	1
IL7R	1	0	0	0	0	1
JUN, LOC129930620	1	0	0	0	0	1
PTEN	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University	46	2	69	0	0	117
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center	32	0	22	0	0	54
CSER _CC_NCGL, University of Washington	5	0	14	26	0	45
3DMed Clinical Laboratory Inc	17	1	11	1	0	30
Illumina Laboratory Services, Illumina	1	1	22	4	0	27
Yang An-Suei Laboratory, Academia Sinica	22	0	0	0	0	22
Institute of Human Genetics, University of Leipzig Medical Center	0	0	4	2	1	7
ACT Genomics,	2	0	1	3	0	6
Genomic Center, National Cancer Institute	6	0	0	0	0	6
Institute of Human Genetics, University of Wuerzburg	1	1	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	1
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center	1	0	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	0	0	1	1

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