ClinVar Miner

Variants studied for SCN4A-related myopathy, autosomal recessive

Included ClinVar conditions (4):
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
16 6 281 69 47 3 414

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GH-LCR, SCN4A 11 4 180 40 35 2 268
SCN4A 5 2 100 29 12 1 145
RANBP2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 8 2 140 63 1 0 214
Illumina Laboratory Services, Illumina 0 0 146 11 43 0 200
Athena Diagnostics Inc 0 0 0 0 14 0 14
Baylor Genetics 3 0 3 0 0 0 6
OMIM 4 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.