ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.7161-9C>T

gnomAD frequency: 0.00061  dbSNP: rs187613754
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128277 SCV000171869 benign not specified 2013-08-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000147658 SCV000195107 uncertain significance Developmental and epileptic encephalopathy, 5 2014-05-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725332 SCV000336104 uncertain significance not provided 2015-11-02 criteria provided, single submitter clinical testing
Invitae RCV001086915 SCV000562982 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000147658 SCV002056612 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551233 SCV004747996 likely benign SPTAN1-related disorder 2019-07-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000725332 SCV001928747 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000725332 SCV001975282 likely benign not provided no assertion criteria provided clinical testing

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