ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.*15G>A

gnomAD frequency: 0.00007  dbSNP: rs187737212
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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 RCV001098106 SCV001254449 benign Alternating hemiplegia of childhood 1 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 RCV001099890 SCV001256381 likely benign Migraine, familial hemiplegic, 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.
GeneDx RCV001712850 SCV001941790 likely benign not provided 2017-06-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001098106 SCV002539892 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260136 SCV002539893 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260135 SCV002539894 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001099890 SCV002539896 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing

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