ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome 8

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 total
5 0 4 0 1 10

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance benign total
BLOC1S3 5 4 1 10

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance benign total
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 3 0 0 3
OMIM 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 2 0 2
Baylor Genetics 0 1 0 1
Genome-Nilou Lab 0 0 1 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 0 1

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