Variants studied for Ehlers-Danlos syndrome, spondylocheirodysplastic type

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	not provided	total
2	0	94	154	13	1	261

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	not provided	total
SLC39A13	2	94	154	13	1	261

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	1	91	154	13	0	259
Fulgent Genetics, Fulgent Genetics	0	2	2	0	0	4
Revvity Omics, Revvity	0	3	0	0	0	3
OMIM	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	2	0	2
Mendelics	0	0	0	1	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	1	1

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