ClinVar Miner

Variants studied for Cataract 13 with adult I phenotype

Coded as:
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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
12 3 12 4 9 37

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
GCNT2 12 3 11 4 9 36
C6orf52, GCM2, GCNT2, MAK, PAK1IP1, TFAP2A, TMEM14B, TMEM14C 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 8 2 9 4 8 31
OMIM 3 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 2
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 0 1 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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