ClinVar Miner

Variants studied for Familial hyperkalemic periodic paralysis

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
91 32 944 666 138 19 1808

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GH-LCR, SCN4A 60 22 621 409 83 12 1156
SCN4A 30 10 320 257 55 7 648
CD79B, SCN4A 0 0 1 0 0 0 1
CEP95, DDX5, ERN1, ICAM2, LRRC37A3, MILR1, PECAM1, POLG2, PRR29, SCN4A, SMURF2, TEX2 0 0 1 0 0 0 1
CLCN1 0 0 1 0 0 0 1
CLCN1, LOC123956257 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 87 23 875 644 80 0 1709
Illumina Laboratory Services, Illumina 0 0 72 31 100 0 203
GeneReviews 1 0 0 0 0 19 20
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 5 2 5 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 5 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 2 0 0 0 7
MGZ Medical Genetics Center 2 1 1 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
OMIM 2 0 0 0 0 0 2
3billion 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 1 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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