Variants studied for Neu-Laxova syndrome 2

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
24	7	117	114	13	275

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PSAT1	23	7	117	114	13	274
CEP78, GNA14, GNAQ, PSAT1, VPS13A	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	21	6	116	114	11	268
Genome-Nilou Lab	0	0	0	0	4	4
OMIM	3	0	0	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	1	0	0	2
Istanbul Faculty of Medicine, Istanbul University	0	1	0	0	0	1

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