ClinVar Miner

Variants studied for Alazami-Yuan syndrome

Included ClinVar conditions (1):
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
2 2 7 0 6 16

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
AP4M1, TAF6 0 0 7 2 9
TAF6 2 2 0 4 7

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genome-Nilou Lab 0 0 0 6 6
Baylor Genetics 0 0 4 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 0 2
OMIM 2 0 0 0 2
Revvity Omics, Revvity 0 1 1 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 1

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