Variants studied for Rienhoff syndrome

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	not provided	total
35	23	198	148	14	1	413

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
TGFB3	35	22	198	148	14	1	412
LOC130056139, TGFB3	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	30	19	187	147	14	0	397
Fulgent Genetics, Fulgent Genetics	0	2	22	5	0	0	29
OMIM	6	0	0	0	0	0	6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	3	0	0	0	4
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	2	0	0	0	2
3billion	0	1	1	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	0	1
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	0	1	0	0	0	1
Clinical Genetics and Genomics, Karolinska University Hospital	1	0	0	0	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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