ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2371-32A>C

dbSNP: rs303767
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001655247 SCV001867651 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807483 SCV002054568 benign Myoclonus, familial, 2 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807480 SCV002054569 benign Cognitive impairment with or without cerebellar ataxia 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807481 SCV002054570 benign Developmental and epileptic encephalopathy, 13 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807482 SCV002054571 benign Seizures, benign familial infantile, 5 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594457 SCV005087592 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 99% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 92. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001655247 SCV005228874 benign not provided criteria provided, single submitter not provided

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