ClinVar Miner

Variants studied for Cockayne syndrome type 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
16 17 16 0 1 46

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
ERCC8 15 17 12 1 41
ERCC8, NDUFAF2 1 0 4 0 5

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance benign total
Counsyl 5 17 15 0 37
OMIM 5 0 0 0 5
Fulgent Genetics 1 0 1 0 2
Laboratoires de Diagnostic Génétique,Hôpitaux Universitaires de Strasbourg 1 0 0 1 2
Children's Hospital of Soochow University,Soochow University 2 0 0 0 2
Breda Genetics srl 2 0 0 0 2
Claritas Genomics 1 0 0 0 1
Department of Medical Genetics,College of Basic Medicine, Army Medical University 1 0 0 0 1

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