ClinVar Miner

Variants studied for amelocerebrohypohidrotic syndrome

Included ClinVar conditions (1):
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
29 12 261 242 32 550

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ROGDI 29 12 260 242 32 549
ADCY9, ANKS3, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, GLIS2, HMOX2, MGRN1, NMRAL1, NUDT16L1, PAM16, ROGDI, SEPTIN12, SMIM22, SRL, TFAP4, UBALD1, VASN, ZNF500 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 25 7 221 231 27 511
Illumina Laboratory Services, Illumina 0 0 37 11 9 57
OMIM 8 0 0 0 0 8
Revvity Omics, Revvity 1 1 2 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 1 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 3
Baylor Genetics 0 0 2 0 0 2
Mendelics 0 0 0 2 0 2
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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