ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1193-4C>G

gnomAD frequency: 0.00023  dbSNP: rs200111818
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000470593 SCV000556856 benign Dystonia 12 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001529518 SCV001871791 benign not provided 2018-12-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259958 SCV002539017 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259959 SCV002539018 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259960 SCV002539019 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000470593 SCV002539021 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525651 SCV003549881 likely benign Inborn genetic diseases 2021-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529518 SCV001743101 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529518 SCV001927294 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529518 SCV001968937 likely benign not provided no assertion criteria provided clinical testing

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