Variants studied for MASS 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
25	21	253	31	1	8	334

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	not provided	total
FBN1	25	19	238	31	1	8	317
FBN1, LOC126862124	0	0	8	0	0	0	8
COL2A1	0	2	1	0	0	0	3
FBN1, LOC113939944	0	0	2	0	0	0	2
FBN1, LOC130057019	0	0	2	0	0	0	2
FBN1, LOC130057020	0	0	2	0	0	0	2

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	13	9	207	18	0	0	247
Illumina Laboratory Services, Illumina	0	0	30	11	0	0	41
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	9	8	17	2	1	0	37
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	6	6
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf	0	2	1	0	0	0	3
OMIM	2	0	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Department of Medical Genetics, Gazi University	1	0	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	1	0	0	0	0	1
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University	0	0	1	0	0	0	1
Suma Genomics	0	0	1	0	0	0	1

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