ClinVar Miner

Variants studied for Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
5 9 492 50 1 556

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
KMT2D 5 9 468 46 1 528
KMT2D, LOC126861520 0 0 24 4 0 28

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 0 6 476 46 1 529
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 15 4 0 21
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 1 0 0 6
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 2

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