ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) (rs267606670)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000128465 SCV000246634 pathogenic Alternating hemiplegia of childhood 2 2015-07-23 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV000128465 SCV000746607 pathogenic Alternating hemiplegia of childhood 2 2017-10-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763432 SCV000894198 pathogenic Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; Dystonia 12; Alternating hemiplegia of childhood 2 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000013778 SCV000034025 pathogenic Dystonia 12 2014-01-01 no assertion criteria provided literature only
GeneReviews RCV000013778 SCV000087047 pathologic Dystonia 12 2011-08-25 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000128465 SCV000172167 pathogenic Alternating hemiplegia of childhood 2 2014-01-01 no assertion criteria provided literature only

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