ClinVar Miner

Variants studied for Classic homocystinuria

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
46 71 156 82 30 2 336

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CBS 46 70 156 82 30 2 335
PKHD1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 41 7 91 67 16 0 222
Counsyl 6 61 20 1 0 0 88
Illumina Clinical Services Laboratory,Illumina 4 2 51 11 16 0 84
Fulgent Genetics,Fulgent Genetics 6 2 5 0 0 0 13
Baylor Genetics 5 0 0 0 0 0 5
Mendelics 0 0 2 1 1 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 2 0 4
Myriad Women's Health, Inc. 3 1 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 1 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 1 1 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 2
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies 0 0 0 0 0 1 1

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