ClinVar Miner

Variants studied for autosomal dominant cutis laxa

Included ClinVar conditions (14):
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 not provided total
33 20 388 216 69 7 721

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALDH18A1 23 14 309 195 17 3 554
ELN 7 6 64 21 50 3 146
FBLN5 2 0 15 0 2 1 20
ALDH18A1, ENTPD1, TCTN3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 22 11 301 194 12 0 540
Illumina Laboratory Services, Illumina 0 0 38 19 48 0 105
Fulgent Genetics, Fulgent Genetics 0 3 29 3 2 0 37
OMIM 11 0 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 11 0 11
Baylor Genetics 1 1 7 0 0 0 9
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 7 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 5 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 1 0 3
New York Genome Center 0 0 2 0 0 0 2
3billion, Medical Genetics 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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