ClinVar Miner

Variants studied for Cowden syndrome 6

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
3 0 206 245 26 476

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
AKT1 3 205 245 26 475
AKT1, ZBTB42 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 1 203 243 24 471
Mendelics 0 5 1 3 9
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 2 5 7
OMIM 2 0 0 0 2
Baylor Genetics 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 1

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