Variants studied for atelosteogenesis type II

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
121	42	231	291	32	682

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
SLC26A2	121	42	224	291	32	675
LOC129994976, SLC26A2	0	0	7	0	0	7

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	118	12	131	277	12	550
Illumina Laboratory Services, Illumina	0	0	103	13	27	143
Counsyl	2	23	0	0	0	25
Fulgent Genetics, Fulgent Genetics	4	4	1	2	0	11
Genome-Nilou Lab	0	0	6	1	0	7
OMIM	6	0	0	0	0	6
Baylor Genetics	3	0	0	0	0	3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	1	1	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	1	0	0	0	0	1
Myriad Genetics, Inc.	0	1	0	0	0	1
DASA	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1

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