ClinVar Miner

Variants in gene SRCAP

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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
13 4 84 62 20 170

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Floating-Harbor syndrome 7 0 48 51 2 107
not provided 7 4 38 4 1 54
not specified 0 0 1 19 19 36
Inborn genetic diseases 3 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 42 51 2 95
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 31 9 13 55
GeneDx 7 4 4 1 0 16
Genetic Services Laboratory, University of Chicago 2 0 2 5 3 12
PreventionGenetics 0 0 0 4 4 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 4 1 6
OMIM 5 0 0 0 0 5
Ambry Genetics 3 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 3 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 2 2
GeneReviews 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Baylor Genetics 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 1

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