ClinVar Miner

Variants studied for Homocystinuria due to CBS deficiency

Coded as:
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 not provided total
35 68 109 41 16 1 241

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 35 67 109 41 16 1 240
PKHD1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 4 84 36 14 0 169
Counsyl 9 61 20 1 0 0 91
Fulgent Genetics,Fulgent Genetics 6 2 5 0 0 0 13
Illumina Clinical Services Laboratory,Illumina 4 2 4 0 0 0 10
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 2 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 1 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 1 0 0 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1

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