Variants in gene SLITRK6

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
7	5	148	68	20	4	239

Condition and significance breakdown #

Total conditions: 8

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
not provided	3	2	77	58	20	0	157
Inborn genetic diseases	0	0	88	2	0	0	90
not specified	1	0	7	9	9	0	25
SLITRK6-related disorder	0	2	2	9	4	0	17
High myopia-sensorineural deafness syndrome	3	1	4	1	1	4	10
Hearing impairment	0	0	2	0	0	0	2
Breast ductal adenocarcinoma	0	0	1	0	0	0	1
Global developmental delay	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 24

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	3	0	36	48	12	0	99
Ambry Genetics	0	0	88	2	0	0	90
GeneDx	0	1	50	15	16	0	82
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	7	7	9	0	23
PreventionGenetics, part of Exact Sciences	0	2	2	9	4	0	17
Breakthrough Genomics, Breakthrough Genomics	0	0	2	1	9	0	12
Athena Diagnostics	0	0	0	0	6	0	6
Fulgent Genetics, Fulgent Genetics	0	1	2	1	0	0	4
CeGaT Center for Human Genetics Tuebingen	0	1	0	2	1	0	4
OMIM	3	0	0	0	0	0	3
GeneReviews	0	0	0	0	0	3	3
Eurofins Ntd Llc (ga)	0	0	1	1	0	0	2
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center	0	0	2	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
Revvity Omics, Revvity	1	0	0	0	0	0	1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	1	0	0	0	0	0	1
Bionano Laboratories	0	0	1	0	0	0	1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc.	0	0	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	1	0	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	1	0	0	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University	1	0	0	0	0	0	1

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