Variants in gene MAT2A - 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
1	0	75	173	28	262

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	uncertain significance	likely benign	benign	total
Familial thoracic aortic aneurysm and aortic dissection	1	47	116	17	181
Cardiovascular phenotype	0	32	73	2	107
not provided	0	2	23	10	35
not specified	0	3	17	14	32
MAT2A-related disorder	0	2	4	0	6
Isolated thoracic aortic aneurysm	0	2	0	0	2

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	1	47	116	17	181
Ambry Genetics	0	32	73	2	107
GeneDx	0	1	35	10	46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	3	3	14	20
Breakthrough Genomics, Breakthrough Genomics	0	0	1	8	9
PreventionGenetics, part of Exact Sciences	0	2	4	0	6
CeGaT Center for Human Genetics Tuebingen	0	0	2	0	2
Department of Vascular Biology, Beijing Anzhen Hospital	0	2	0	0	2
OMIM	0	1	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	1	0	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	1	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	1	0	1

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