ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=)

gnomAD frequency: 0.00802  dbSNP: rs35272495
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000265803 SCV000413405 benign Alternating hemiplegia of childhood 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000320873 SCV000413406 benign Dystonia 12 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000320873 SCV000645406 benign Dystonia 12 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710701 SCV000840986 benign not provided 2017-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000710701 SCV001883546 benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000265803 SCV002539997 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259858 SCV002539998 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259859 SCV002539999 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000320873 SCV002540000 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing

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