Variants in gene ATCAY - 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
4	0	143	37	37	208

Condition and significance breakdown #

Total conditions: 4

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Condition	pathogenic	uncertain significance	likely benign	benign	total
Cayman type cerebellar ataxia	2	97	17	29	145
not provided	2	7	25	19	48
Inborn genetic diseases	0	44	0	0	44
ATCAY-related disorder	0	0	4	2	6

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	92	17	28	137
Ambry Genetics	0	44	0	0	44
Labcorp Genetics (formerly Invitae), Labcorp	0	0	16	8	24
Breakthrough Genomics, Breakthrough Genomics	0	2	7	10	19
CeGaT Center for Human Genetics Tuebingen	0	5	7	2	14
PreventionGenetics, part of Exact Sciences	0	0	4	2	6
OMIM	2	0	0	0	2
Genetic Services Laboratory, University of Chicago	2	0	0	0	2
Revvity Omics, Revvity	0	2	0	0	2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	1	1	0	2
Baylor Genetics	0	1	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	1	0	0	1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	0	1	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	1
Genome-Nilou Lab	0	0	0	1	1

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