ClinVar Miner

Variants in gene EP400

See also:
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
0 0 305 112 47 452

Condition and significance breakdown #

Total conditions: 6
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Condition uncertain significance likely benign benign total
not specified 272 22 1 295
not provided 14 53 33 95
EP400-related disorder 18 44 18 80
Neurodevelopmental disorder 2 0 0 2
EP400-associated neurodevelopmental disorder 1 0 0 1
See cases 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter uncertain significance likely benign benign total
Ambry Genetics 271 22 0 293
PreventionGenetics, part of Exact Sciences 18 44 18 80
Labcorp Genetics (formerly Invitae), Labcorp 0 37 31 68
CeGaT Center for Human Genetics Tuebingen 7 23 1 31
Breakthrough Genomics, Breakthrough Genomics 0 8 18 26
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 0 0 4
GeneDx 0 0 2 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1
Bionano Laboratories 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 1

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