Variants in gene VSX1 - ClinVar Miner

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
3	0	92	40	32	148

Condition and significance breakdown #

Total conditions: 12

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Condition	pathogenic	uncertain significance	likely benign	benign	total
Polymorphous corneal dystrophy	0	33	8	27	68
not provided	0	23	27	18	67
Inborn genetic diseases	0	33	4	0	37
VSX1-related disorder	0	3	5	2	10
not specified	0	4	0	2	6
Keratoconus 1	2	2	0	1	5
Keratoconus 1; Craniofacial anomalies and anterior segment dysgenesis syndrome	0	3	2	0	5
Craniofacial anomalies and anterior segment dysgenesis syndrome	1	0	0	1	2
Congenital long QT syndrome	0	1	0	0	1
Keratoconus	0	0	1	0	1
Long QT syndrome	0	0	1	0	1
Posterior polymorphous corneal dystrophy 1	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	33	9	27	68
Labcorp Genetics (formerly Invitae), Labcorp	0	17	24	12	53
Ambry Genetics	0	33	4	0	37
Breakthrough Genomics, Breakthrough Genomics	0	1	1	13	15
PreventionGenetics, part of Exact Sciences	0	3	5	4	12
OMIM	3	2	0	0	5
GeneDx	0	3	0	2	5
Department of Pathology and Laboratory Medicine, Sinai Health System	0	5	0	0	5
Mendelics	0	3	0	0	3
CeGaT Center for Human Genetics Tuebingen	0	0	3	0	3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	2	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	2	0	2
Revvity Omics, Revvity	0	1	0	0	1
Medical Research Institute, Tokyo Medical and Dental University	0	0	1	0	1
Breda Genetics srl	0	0	0	1	1
Genetics and Genomics Program, Sidra Medicine	0	1	0	0	1
Genome-Nilou Lab	0	0	0	1	1

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