ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2545-7dup

dbSNP: rs56879517
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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 RCV001520528 SCV001729647 benign Early infantile epileptic encephalopathy with suppression bursts 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001685402 SCV001896933 benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807410 SCV002054572 benign Myoclonus, familial, 2 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807407 SCV002054574 benign Cognitive impairment with or without cerebellar ataxia 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807408 SCV002054575 benign Developmental and epileptic encephalopathy, 13 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807409 SCV002054576 benign Seizures, benign familial infantile, 5 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV001528429 SCV005087748 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 98% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 91. Only high quality variants are reported.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528429 SCV001740169 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528429 SCV001928170 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528429 SCV001966009 benign not specified no assertion criteria provided clinical testing

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