Variants in gene SH3PXD2B

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
9	5	283	199	110	539

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	3	2	134	164	76	355
Frank-Ter Haar syndrome	6	3	136	23	51	217
Inborn genetic diseases	0	0	40	11	0	51
SH3PXD2B-related condition	1	0	1	20	1	23
not specified	0	0	2	2	9	13

Submitter and significance breakdown #

Total submitters: 29

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	1	1	111	134	40	287
Illumina Laboratory Services, Illumina	0	0	127	23	50	200
GeneDx	1	1	11	25	43	81
Ambry Genetics	0	0	40	11	0	51
PreventionGenetics, part of Exact Sciences	1	0	1	21	4	27
Eurofins Ntd Llc (ga)	0	0	19	0	4	23
CeGaT Center for Human Genetics Tuebingen	0	0	2	5	1	8
OMIM	6	0	0	0	0	6
Genome-Nilou Lab	0	0	0	0	6	6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	1	0	0	3	1	5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	0	1	3	0	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	2	1	0	3
Fulgent Genetics, Fulgent Genetics	0	0	3	0	0	3
Revvity Omics, Revvity	0	2	0	0	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	2	0	0	2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	0	0	0	2	2
Baylor Genetics	0	0	1	0	0	1
Neurogenetics Research; Murdoch Childrens Research Institute	1	0	0	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	0	1	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg	1	0	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	1	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	1	0	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	1
AiLife Diagnostics, AiLife Diagnostics	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	0	1	0	0	1

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