Variants studied for McKusick-Kaufman 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	total
62	12	199	193	20	467

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	total
MKKS	62	12	185	189	19	448
LOC128706665, LOC128706666, MKKS	0	0	13	4	1	18
JAG1, MKKS, SLX4IP, SNAP25	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	54	6	158	186	12	416
Illumina Laboratory Services, Illumina	0	0	43	5	12	60
Fulgent Genetics, Fulgent Genetics	4	4	23	11	0	42
Mendelics	3	0	0	0	4	7
New York Genome Center	0	0	6	0	0	6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	3	1	0	0	5
OMIM	3	0	0	0	0	3
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences	1	0	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	1	0	0	0	0	1
Tolun Lab, Human Genetics Laboratory, Bogazici University	0	0	1	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	1
3billion	0	0	0	1	0	1

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