ClinVar Miner

Variants in gene WASHC4

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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
6 8 121 38 14 174

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 97 6 0 102
not provided 0 2 20 31 13 62
Intellectual disability, autosomal recessive 43 6 6 9 0 1 20
WASHC4-related disorder 0 0 2 8 2 12
See cases 0 0 2 0 0 2
Inborn genetic diseases 0 0 1 0 0 1
Intellectual disability 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 85 2 0 87
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 21 12 33
Genetic Services Laboratory, University of Chicago 0 0 16 4 0 20
CeGaT Center for Human Genetics Tuebingen 0 2 4 11 2 19
Breakthrough Genomics, Breakthrough Genomics 0 0 1 3 9 13
PreventionGenetics, part of Exact Sciences 0 0 2 8 2 12
GeneDx 0 0 10 0 0 10
OMIM 6 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 4 0 0 6
Baylor Genetics 0 0 4 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 0 0 3
New York Genome Center 0 1 2 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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