ClinVar Miner

Variants studied for Ayme-Gripp syndrome

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
12 2 29 28 10 81

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MAF 11 2 29 28 10 80
DYNLRB2, LINC01227, LINC01228, LINC01229, LOC101928230, LOC110120569, LOC110120570, LOC111365156, LOC111365213, LOC111429607, LOC112486209, LOC121587563, LOC121587564, LOC121587565, LOC125177356, LOC125177357, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC129390812, LOC130059460, LOC130059461, LOC130059462, LOC130059463, LOC130059464, LOC130059465, LOC130059466, LOC130059467, LOC130059468, LOC130059469, LOC130059470, LOC130059471, LOC130059472, LOC130059473, LOC130059474, LOC130059475, LOC130059476, LOC130059477, LOC130059478, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, MAF, MAFTRR, WWOX 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 2 23 28 9 67
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità 7 0 0 0 0 7
OMIM 6 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 0 3 0 3
New York Genome Center 0 0 3 0 0 3
Baylor Genetics 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 1 0 0 0 1

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