Variants studied for NPHP3-related Meckel-like 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	total
20	37	279	47	3	383

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
NPHP3, NPHP3-ACAD11	20	37	249	43	3	349
LOC129937586, NPHP3, NPHP3-ACAD11	0	0	30	4	0	34

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	13	34	217	38	0	302
Illumina Laboratory Services, Illumina	0	0	72	11	3	86
Baylor Genetics	2	0	2	0	0	4
Juno Genomics, Hangzhou Juno Genomics, Inc	2	2	0	0	0	4
Johns Hopkins Genomics, Johns Hopkins University	3	1	0	0	0	4
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	0	1	0	0	3
OMIM	2	0	0	0	0	2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	2	0	0	0	0	2
Institute of Human Genetics, Heidelberg University	0	1	0	0	0	1
DASA	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	1

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