ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.994-4C>G

gnomAD frequency: 0.00005  dbSNP: rs373698149
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001135540 SCV001295323 benign Dystonia 12 2018-01-13 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 RCV001135541 SCV001295324 likely benign Alternating hemiplegia of childhood 2 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV001135540 SCV001695898 likely benign Dystonia 12 2023-12-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001135541 SCV002539052 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259956 SCV002539054 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259957 SCV002539055 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001135540 SCV002539056 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing

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