Variants in gene SLC10A1

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	protective	total
4	11	109	29	6	1	140

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	protective	total
not provided	0	3	69	0	6	0	76
SLC10A1-related disorder	0	8	17	27	0	0	52
not specified	0	0	33	3	2	0	38
Hypercholanemia, familial, 2	4	3	9	1	0	0	13
Hepatic fibrosis; Cholestasis; high serum bile salts; normal GGT	0	0	1	0	0	0	1
Hepatitis B virus, resistance to	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	protective	total
Eurofins Ntd Llc (ga)	0	0	67	1	2	0	70
PreventionGenetics, part of Exact Sciences	0	8	17	27	0	0	52
Ambry Genetics	0	0	33	2	0	0	35
Mayo Clinic Laboratories, Mayo Clinic	0	2	5	0	0	0	7
Breakthrough Genomics, Breakthrough Genomics	0	0	3	0	3	0	6
CeGaT Center for Human Genetics Tuebingen	0	1	3	0	1	0	5
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	0	4	0	4
OMIM	3	0	0	0	0	1	3
Fulgent Genetics, Fulgent Genetics	0	0	2	1	0	0	3
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	3	0	0	0	3
3billion	0	2	1	0	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	2	0	0	0	2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	2	0	0	0	0	0	2
Revvity Omics, Revvity	0	0	1	0	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	1	0	0	0	0	1
The Raphael Recanati Genetics Institute, Rabin Medical Center	0	0	1	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.