Variants studied for Meckel syndrome, type 11

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
36	7	165	133	17	357

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TMEM231	30	6	157	126	16	334
LOC130059440, TMEM231	3	1	7	6	1	18
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231	1	0	1	0	0	2
CHST5, CHST6, TMEM170A, TMEM231	1	0	0	0	0	1
CHST5, CHST6, TMEM231	1	0	0	0	0	1
DUOX2	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	34	6	161	132	17	350
Fulgent Genetics, Fulgent Genetics	0	0	4	0	0	4
OMIM	2	0	0	0	0	2
Baylor Genetics	1	0	1	0	0	2
Genetic Services Laboratory, University of Chicago	2	0	0	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	1	0	2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	1	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	1	0	0	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	1

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