ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.154-5C>G

gnomAD frequency: 0.00188  dbSNP: rs191645384
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000325331 SCV000332308 benign not specified 2015-06-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358733 SCV000413467 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 RCV000264122 SCV000413468 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000358733 SCV000645396 benign Dystonia 12 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710699 SCV000840984 benign not provided 2018-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000710699 SCV001849410 benign not provided 2019-09-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000264122 SCV002539098 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259760 SCV002539100 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259761 SCV002539101 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000358733 SCV002539102 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710699 SCV004143860 benign not provided 2024-02-01 criteria provided, single submitter clinical testing ATP1A3: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000710699 SCV005307519 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000710699 SCV001807034 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000710699 SCV001931454 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000710699 SCV002036049 likely benign not provided no assertion criteria provided clinical testing

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