ClinVar Miner

Variants in gene SPTLC2

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
7 1 203 63 113 1 367

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary sensory and autonomic neuropathy type IC 4 1 188 35 92 1 314
not provided 1 0 15 17 22 0 54
not specified 0 0 2 27 8 0 37
NEUROPATHY, HEREDITARY SENSORY, TYPE IC 2 0 0 0 0 0 2
Charcot-Marie-Tooth disease 0 0 1 0 0 0 1
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 78 5 85 0 168
Invitae 3 1 110 35 16 0 165
GeneDx 0 0 9 33 27 0 69
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 0 3 0 7
OMIM 6 0 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 0 4
Athena Diagnostics Inc 0 0 0 0 2 0 2
Lineagen, Inc 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Neuromuscular disorders lab,University of Helsinki 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Inherited Neuropathy Consortium 0 0 1 0 0 0 1

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