ClinVar Miner

Variants studied for Hypomyelination and Congenital Cataract

Coded as:
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 not provided total
10 12 153 93 40 5 293

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HYCC1 9 12 150 92 39 5 287
HYCC1, LOC129998062 0 0 3 1 0 0 4
CASP10 0 0 0 0 1 0 1
CDCA7L, DNAH11, HYCC1, IL6, RAPGEF5, SP4, STEAP1B, TOMM7 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6 2 67 80 19 0 174
Illumina Laboratory Services, Illumina 0 1 90 14 25 0 130
OMIM 4 0 0 0 0 0 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 4 0 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 1 0 0 0 0 0 1

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