Variants in gene ATP1A2 - ClinVar Miner

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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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
28	21	160	148	47	354

Condition and significance breakdown #

Total conditions: 12

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Familial hemiplegic migraine	2	6	92	81	21	184
not specified	0	0	8	88	40	126
not provided	9	13	73	5	5	105
Alternating hemiplegia of childhood	0	0	48	37	3	88
Familial hemiplegic migraine type 2	13	0	2	0	1	16
Alternating hemiplegia of childhood 1; Familial hemiplegic migraine type 2	0	0	9	0	0	9
Inborn genetic diseases	2	1	0	0	0	3
Epilepsy; Abnormality of neuronal migration; Arthrogryposis multiplex congenita; Hydrops fetalis	0	2	0	0	0	2
Polymicrogyria	2	0	0	0	0	2
Alternating hemiplegia of childhood 1	1	0	0	0	0	1
Epileptic encephalopathy	0	0	1	0	0	1
Migraine, familial basilar	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GeneDx	6	6	54	79	32	177
Invitae	2	5	40	31	16	94
Illumina Clinical Services Laboratory,Illumina	0	0	48	37	3	88
Ambry Genetics	2	1	7	15	10	35
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	0	0	19	2	7	28
Athena Diagnostics Inc	3	3	8	1	11	26
OMIM	15	0	0	0	0	15
Genetic Services Laboratory, University of Chicago	0	0	2	9	0	11
Fulgent Genetics	0	0	9	0	0	9
PreventionGenetics	0	0	0	0	8	8
CeGaT Praxis fuer Humangenetik Tuebingen	0	4	2	2	0	8
Mendelics	0	2	0	0	0	2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	0	0	0	2	0	2
Laboratoire de Cytogenetique,Hospices Civils de Lyon	2	0	0	0	0	2
Baylor Miraca Genetics Laboratories,	0	0	1	0	0	1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues	0	0	1	0	0	1
Neurogenetics Laboratory - MEYER,AOU Meyer	0	0	1	0	0	1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	0	0	1	0	0	1

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