ClinVar Miner

Variants in gene combination CDSN, PSORS1C1

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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 total
6 4 61 27 54 145

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 0 34 21 54 106
Inborn genetic diseases 0 0 32 4 0 36
CDSN-related disorder 0 1 3 6 7 17
Peeling skin syndrome 1 4 3 1 0 2 10
Hypotrichosis 2 2 0 1 1 0 4
not specified 0 0 1 1 1 3
Hypotrichosis 2; Peeling skin syndrome 1 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 26 17 36 79
Ambry Genetics 0 0 32 4 0 36
GeneDx 0 0 4 2 29 35
PreventionGenetics, part of Exact Sciences 0 1 3 6 7 17
CeGaT Center for Human Genetics Tuebingen 1 0 2 5 2 10
OMIM 6 0 0 0 0 6
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 2
Mendelics 0 1 0 0 1 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 2
Baylor Genetics 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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