ClinVar Miner

Variants studied for reticulate pigment disorder

Included ClinVar conditions (9):
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
64 11 726 472 83 2 1331

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ADAR 41 8 654 403 52 2 1136
ADAR, LOC126805874 4 1 39 37 4 0 82
POFUT1 5 0 18 20 21 0 64
ADAR, LOC129931512 0 0 8 10 2 0 20
ADAM10 5 0 2 1 0 0 8
POGLUT1 5 0 0 0 2 0 7
KRT5 3 1 1 1 0 0 6
ADAR, LOC129931513 0 0 3 0 1 0 4
KRT5, LOC126861526 0 1 0 0 1 0 2
ADAR, AQP10, ATP8B2, C1orf43, CFAP141, CHRNB2, CREB3L4, CRTC2, DENND4B, GATAD2B, HAX1, IL6R, JTB, NUP210L, RAB13, RPS27, SHE, SLC39A1, TDRD10, TPM3, UBAP2L, UBE2Q1 0 0 1 0 0 0 1
ADAR, CHRNB2, IL6R, SHE, TDRD10, UBE2Q1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 40 4 655 465 44 0 1208
Illumina Laboratory Services, Illumina 0 0 77 7 47 0 131
OMIM 21 0 0 0 0 0 21
Fulgent Genetics, Fulgent Genetics 2 0 6 6 2 0 16
Genome-Nilou Lab 0 0 0 0 8 0 8
Mendelics 2 2 0 0 0 0 4
Revvity Omics, Revvity 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1

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