ClinVar Miner

Variants studied for Ayme-Gripp syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
15 4 35 34 13 100

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 14 4 35 34 13 99
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: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 7 2 27 34 12 82
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
New York Genome Center 0 0 4 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 0 3 0 3
3billion 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Chaochun Lab, Department of Endocrinology, Children's Hospital, Zhejiang University School Of Medicine 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Institute of Human Genetics, University of Goettingen 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

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