Variants studied for Rieger anomaly

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
23	7	45	13	24	112

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PITX2	23	6	45	10	24	108
CHST5	0	0	0	1	0	1
DACT1	0	0	0	1	0	1
FRAS1	0	0	0	1	0	1
PTCH1	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	36	0	20	56
Invitae	20	5	9	10	8	52
Paul Sabatier University EA-4555, Paul Sabatier University	0	1	0	3	0	4
OMIM	2	0	0	0	0	2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	1	0	0	0	0	1
Genetics Department, University Hospital of Toulouse	0	1	0	0	0	1

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