ClinVar Miner

Variants studied for Noonan syndrome-like disorder with loose anagen hair 1

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
2 1 18 20 5 1 45

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SHOC2 2 1 18 20 5 1 45

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 17 20 5 0 42
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
OMIM 1 0 0 0 0 0 1
Baylor Genetics 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 1
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 1 1
Genetic Testing Lab, University of Kentucky College of Medicine 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 1
ClinGen RASopathy Variant Curation Expert Panel 1 0 0 0 0 0 1

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