ClinVar Miner

Variants studied for Neu-Laxova syndrome 1

Coded as:
Minimum submission review status: Collection method:
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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
7 3 6 0 5 20

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
PHGDH 7 3 6 5 20

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance benign total
Baylor Genetics 0 2 4 0 6
Genome-Nilou Lab 0 0 0 5 5
OMIM 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1

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