Variants studied for SRD5A3-congenital disorder of glycosylation

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
10	4	91	40	18	158

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SRD5A3	10	4	91	40	18	158

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	4	1	31	37	4	77
Illumina Laboratory Services, Illumina	0	0	58	3	15	76
OMIM	5	0	0	0	0	5
Baylor Genetics	1	0	2	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	1	0	0	2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	1	0	1	0	0	2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	0	1	0	0	1
Mendelics	1	0	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	1	0	0	0	0	1
Ege University Pediatric Genetics, Ege University	0	0	1	0	0	1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences	1	0	0	0	0	1
DNA Laboratuvarlari GHTM	1	0	0	0	0	1
Lifecell International Pvt. Ltd	1	0	0	0	0	1
Suma Genomics	1	0	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	1	0	0	0	1

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