ClinVar Miner

Variants studied for Stormorken syndrome

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
15 10 355 234 31 3 639

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
STIM1 14 10 280 211 29 3 538
LOC124418421, STIM1 0 0 70 21 2 0 93
LOC130005165, STIM1 0 0 3 2 0 0 5
PGAP2, RHOG, STIM1 0 0 2 0 0 0 2
LOC112081391, LOC121832782, LOC121832783, LOC124418420, LOC124418421, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, STIM1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 14 7 350 233 30 0 634
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 5 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 4 1 0 0 5
Genome-Nilou Lab 0 0 0 0 3 0 3
OMIM 2 0 0 0 0 0 2
Baylor Genetics 1 0 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 0 0 0 1 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, Hospital Puerta de Hierro-Majadahonda 1 0 0 0 0 0 1

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