ClinVar Miner

Variants studied for SCN4A-related myopathy, autosomal recessive

Included ClinVar conditions (3):
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
10 2 155 11 47 221

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GH-LCR, SCN4A 6 1 110 6 35 157
SCN4A 4 1 45 5 12 64

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 145 11 43 199
Fulgent Genetics,Fulgent Genetics 4 2 11 0 0 17
Athena Diagnostics Inc 0 0 0 0 16 16
Baylor Genetics 1 0 3 0 0 4
OMIM 3 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2

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