ClinVar Miner

Variants studied for Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S

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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 not provided total
120 35 380 562 52 3 1136

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 not provided total
IGHMBP2 117 34 365 537 47 3 1087
IGHMBP2, LOC126861245 3 1 15 25 5 0 49

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 119 24 373 560 52 0 1128
Fulgent Genetics, Fulgent Genetics 12 9 7 2 0 0 30
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Suma Genomics 1 1 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1

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