ClinVar Miner

Variants in gene VPS13A

Minimum submission review status: Collection method:
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Gene type:
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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 total
23 5 105 50 17 185

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Choreoacanthocytosis 11 0 84 45 6 136
not provided 11 5 17 5 10 48
not specified 0 0 10 3 3 16
Ductal breast carcinoma 0 0 1 0 0 1
primray hypomagnesemia with secondary hypocalcemia 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 81 29 5 115
Athena Diagnostics Inc 1 0 20 8 9 38
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 14 2 17
GeneDx 5 2 4 0 0 11
OMIM 10 0 0 0 0 10
Invitae 5 2 0 0 0 7
Counsyl 0 0 3 2 0 5
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 0 1
MK Azim Lab,Mohammad Ali Jinnah University 1 0 0 0 0 1

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