ClinVar Miner

Variants in gene VPS13A

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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 total
93 21 219 377 86 713

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 77 19 30 353 56 524
Choreoacanthocytosis 18 2 193 54 71 310
not specified 0 0 9 1 3 13
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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 74 17 1 348 47 487
Illumina Clinical Services Laboratory,Illumina 0 0 148 21 50 219
Natera, Inc. 2 0 44 24 40 110
Athena Diagnostics Inc 1 0 23 10 16 50
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 14 2 17
GeneDx 5 2 4 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 8 2 0 11
OMIM 10 0 0 0 0 10
Baylor Genetics 1 1 5 0 0 7
Counsyl 0 0 3 2 0 5
Cincinnati Children's Hospital Medical Center 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 2 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Lineagen, Inc 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 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
Functional Genomic Platform,Centre National pour la Recherche Scientifique et Technique 1 0 0 0 0 1
MK Azim Lab,Mohammad Ali Jinnah University 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 1

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