Variants studied for Seckel syndrome 1

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
6	6	239	147	47	3	437

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ATR	6	6	229	143	45	3	421
ATR, LOC126806830	0	0	8	3	0	0	11
ATR, LOC129937703	0	0	2	1	0	0	3
CENPJ	0	0	0	0	2	0	2

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Genome-Nilou Lab	0	1	168	142	39	0	350
Illumina Laboratory Services, Illumina	0	0	85	8	27	0	120
Genetic Services Laboratory, University of Chicago	1	1	13	0	0	0	15
Mendelics	0	0	2	0	3	0	5
OMIM	4	0	0	0	0	0	4
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	3	0	0	0	4
Stewart Lab, University of Birmingham	0	2	0	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
Baylor Genetics	0	0	1	0	0	0	1
Service de Génétique Moléculaire, Hôpital Robert Debré	1	0	0	0	0	0	1
New York Genome Center	0	0	1	0	0	0	1
DASA	0	1	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1

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