ClinVar Miner

Variants studied for Coffin-Lowry syndrome; Mental retardation, X-linked 19

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
4 1 6 1 0 12

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 total
RPS6KA3 4 1 6 1 12

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Invitae 4 0 4 1 9
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 1 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 1

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