ClinVar Miner

Variants studied for holoprosencephaly 2

Included ClinVar conditions (2):
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
17 3 55 45 17 135

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SIX3 16 2 54 45 16 131
​intergenic 0 0 0 0 1 1
ABCG5, ABCG8, CAMKMT, DYNC2LI1, LRPPRC, PPM1B, PREPL, SIX2, SIX3, SLC3A1 1 0 0 0 0 1
NSD1 0 1 0 0 0 1
SIX2, SIX3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 5 1 51 45 16 118
OMIM 8 0 0 0 0 8
GeneReviews 4 0 0 0 4 8
Fulgent Genetics, Fulgent Genetics 0 0 2 0 1 3
Muenke lab, National Institutes of Health 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 2
Mendelics 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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