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
14	12	161	44	3	233

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	14	12	141	40	3	209
LOC129937586, NPHP3, NPHP3-ACAD11	0	0	20	4	0	24

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	10	10	97	35	0	152
Illumina Laboratory Services, Illumina	0	0	72	11	3	86
Baylor Genetics	2	0	2	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
DASA	0	1	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	1	0	0	0	0	1

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