Variants studied for stiff skin 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	not provided	total
35	25	345	60	89	7	548

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
FBN1	35	24	326	57	82	6	519
FBN1, LOC126862124	0	0	9	2	3	1	13
FBN1, LOC130057020	0	0	6	0	1	0	7
FBN1, LOC113939944	0	1	2	1	1	0	5
FBN1, LOC130057019	0	0	2	0	2	0	4

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	17	10	211	19	0	0	257
Illumina Laboratory Services, Illumina	0	0	108	39	89	0	236
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	10	7	16	2	1	0	36
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	14	0	0	0	15
Juno Genomics, Hangzhou Juno Genomics, Inc	2	4	7	0	0	0	13
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	7	7
OMIM	5	0	0	0	0	0	5
Baylor Genetics	1	2	1	0	0	0	4
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	0	1
3billion	0	0	0	1	0	0	1
Suma Genomics	0	0	1	0	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	1	0	0	0	0	1

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