Variants in gene ARHGEF1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
2	0	396	378	35	799

Condition and significance breakdown #

Total conditions: 4

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Condition	pathogenic	uncertain significance	likely benign	benign	total
not provided	0	360	370	29	752
not specified	0	89	5	6	100
ARHGEF1-related disorder	0	0	12	7	19
Immunodeficiency 62	2	5	0	0	7

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	357	362	29	748
Ambry Genetics	0	88	3	0	91
Breakthrough Genomics, Breakthrough Genomics	0	4	9	10	23
CeGaT Center for Human Genetics Tuebingen	0	5	15	1	21
PreventionGenetics, part of Exact Sciences	0	0	12	7	19
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	0	0	6	6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	2	0	3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	3	0	0	3
OMIM	2	0	0	0	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	2	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	2	0	0	2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	2	0	2
Revvity Omics, Revvity	0	1	0	0	1

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