ClinVar Miner

Variants in gene combination LOC130009366, SACS

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Minimum submission review status: Collection method:
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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
6 12 24 68 6 97

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Spastic paraplegia 6 2 2 63 4 77
Charlevoix-Saguenay spastic ataxia 0 10 12 7 1 25
not provided 0 0 6 7 2 14
Inborn genetic diseases 0 0 6 0 0 6
not specified 0 0 2 1 2 5
Hereditary spastic paraplegia 0 0 3 0 0 3

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 2 2 63 4 77
Natera, Inc. 0 0 6 2 1 9
GeneDx 0 0 2 4 2 8
Illumina Laboratory Services, Illumina 0 0 6 1 0 7
Baylor Genetics 0 5 1 0 0 6
Athena Diagnostics 0 0 5 0 1 6
Ambry Genetics 0 0 6 0 0 6
Genome-Nilou Lab 0 0 1 4 1 6
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 0 2 0 1 0 3
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 0 3 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 0 3
PreventionGenetics, part of Exact Sciences 0 0 0 1 1 2
Counsyl 0 1 0 0 1 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 2 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 1 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
Myriad Genetics, Inc. 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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