ClinVar Miner

Variants in gene combination KCNK4, KCNK4-CATSPERZ

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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
4 5 229 200 37 446

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 3 197 197 37 427
not specified 0 0 42 3 0 45
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 2 2 11 0 1 14
KCNK4-related disorder 0 0 3 6 4 13
Seizure; Abnormal facial shape; Gingival overgrowth; Intellectual disability; Generalized hypertrichosis 2 0 0 0 0 2
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 2 169 188 37 396
Ambry Genetics 0 0 41 3 0 44
GeneDx 2 0 25 0 2 29
CeGaT Center for Human Genetics Tuebingen 0 1 8 13 1 23
PreventionGenetics, part of Exact Sciences 0 0 3 6 4 13
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 6 9
Revvity Omics, Revvity 0 0 5 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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