Variants in gene S1PR2 - ClinVar Miner

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
2	0	64	54	17	125

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	uncertain significance	likely benign	benign	total
not provided	0	38	50	17	97
Inborn genetic diseases	0	37	0	0	37
not specified	0	2	6	8	16
S1PR2-related disorder	0	0	4	3	7
Autosomal recessive nonsyndromic hearing loss 68	2	1	0	1	4

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	23	36	14	73
GeneDx	0	18	18	10	46
Ambry Genetics	0	37	0	0	37
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	2	6	8	16
CeGaT Center for Human Genetics Tuebingen	0	3	5	1	9
Breakthrough Genomics, Breakthrough Genomics	0	0	3	6	9
PreventionGenetics, part of Exact Sciences	0	0	4	3	7
Athena Diagnostics	0	0	1	2	3
OMIM	2	0	0	0	2
Department of Molecular and Human Genetics, Baylor College of Medicine	1	0	0	0	1
National Institute on Deafness and Communication Disorders, National Institutes of Health	1	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	1	0	0	1
Genome-Nilou Lab	0	0	0	1	1

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