ClinVar Miner

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

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
2 1 0 0 0 3

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic total
SHOC2 2 1 3

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 1

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