ClinVar Miner

Variants studied for Simpson-Golabi-Behmel syndrome type 1

Included ClinVar conditions (3):
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
11 3 2 0 0 16

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
GPC3 10 3 1 14
FRMD7, GPC3, GPC4, HS6ST2, IGSF1, MBNL3, OR13H1, RAP2C, STK26, TFDP3, USP26 1 0 0 1
MED12 0 0 1 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 9 0 0 9
Baylor Miraca Genetics Laboratories, 1 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 1
Fulgent Genetics 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 1
University of Bologna, Medical Genetics Unit,University of Bologna 1 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 1 1

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