Variants studied for achondrogenesis type IB

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
129	114	243	306	32	744

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	129	114	236	306	32	737
LOC129994976, SLC26A2	0	0	7	0	0	7

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	125	12	135	290	12	574
Illumina Laboratory Services, Illumina	0	0	103	13	27	143
Baylor Genetics	15	72	1	0	0	88
Natera, Inc.	6	3	21	11	7	48
Fulgent Genetics, Fulgent Genetics	8	28	2	2	0	40
Counsyl	1	22	0	0	0	23
Genome-Nilou Lab	0	0	6	1	1	8
OMIM	5	0	0	0	0	5
Myriad Genetics, Inc.	3	2	0	0	0	5
Juno Genomics, Hangzhou Juno Genomics, Inc	3	0	0	0	0	3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	2	0	0	0	0	2
Division of Human Genetics, Children's Hospital of Philadelphia	0	1	0	0	0	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	1	0	0	0	0	1

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