ClinVar Miner

Variants studied for Neuropathy, hereditary sensory and autonomic, type 1C

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
8 4 309 167 100 2 571

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPTLC2 8 4 307 167 100 2 569
AHSA1, GSTZ1, ISM2, LOC111591503, LOC125048452, LOC126862005, LOC129390650, LOC130056175, LOC130056176, LOC130056177, LOC130056178, LOC130056179, LOC130056180, LOC130056181, LOC130056182, LOC130056183, LOC130056184, LOC130056185, LOC130056186, LOC130056187, LOC132090269, NOXRED1, POMT2, SAMD15, SPTLC2, TMED8, VIPAS39 0 0 1 0 0 0 1
AHSA1, GSTZ1, ISM2, NOXRED1, POMT2, SAMD15, SPTLC2, TMED8, VIPAS39 0 0 1 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 5 1 229 160 20 0 415
Illumina Laboratory Services, Illumina 0 0 78 5 85 0 168
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 2 6 0 14
OMIM 5 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
MGZ Medical Genetics Center 0 1 3 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 0 2 2 0 4
Revvity Omics, Revvity 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Mendelics 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 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
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1

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