Variants studied for SMARCB1-deficient kidney medullary carcinoma

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
9	5	85	10	47	156

Gene and significance breakdown #

Total genes and gene combinations: 14

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ELP4, PAX6	2	0	57	2	37	98
PAX6	4	4	16	5	6	35
LOC106014249, PAX6	0	0	4	0	1	5
COL4A1	1	0	2	0	0	3
COL4A2	0	1	2	0	0	3
TRIM44	1	0	0	0	2	3
CYP26C1	0	0	0	2	0	2
CYP26A1	0	0	1	0	0	1
ELP4	0	0	0	0	1	1
ELP4, PAX6DRR	0	0	1	0	0	1
LOC132090076, SOX5	1	0	0	0	0	1
OPA1	0	0	1	0	0	1
SPG7	0	0	1	0	0	1
UBE3B	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	75	5	44	124
Rare Disease Group, Clinical Genetics, Karolinska Institutet	2	2	7	3	0	14
OMIM	4	0	0	0	0	4
Fulgent Genetics, Fulgent Genetics	2	0	1	1	0	4
Genome-Nilou Lab	0	0	0	0	3	3
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	1	0	0	2
Wessex Regional Genetics Laboratory, Salisbury District Hospital	0	2	0	0	0	2
Baylor Genetics	0	0	1	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	0	1	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Institute of Immunology and Genetics Kaiserslautern	0	1	0	0	0	1

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