Variants studied for apocrine sweat gland disorder

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
64	17	77	54	14	225

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PSEN1	49	16	74	51	13	202
NCSTN	8	1	2	3	0	14
PSENEN	7	0	1	0	1	9

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	48	14	72	51	13	198
OMIM	14	0	0	0	0	14
Fulgent Genetics, Fulgent Genetics	2	2	2	3	0	9
Genome-Nilou Lab	0	0	0	0	2	2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	1	0	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	1	0	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	0	1	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	1	1
New York Genome Center	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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