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
38	23	200	148	14	1	418

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
TGFB3	38	22	199	148	14	1	416
ESRRB, GPATCH2L, IFT43, TGFB3, TTLL5	0	0	1	0	0	0	1
LOC130056139, TGFB3	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	33	19	189	147	14	0	402
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
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	0	1

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