ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6960-8T>C

gnomAD frequency: 0.00078  dbSNP: rs140241053
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147657 SCV000243119 benign not specified 2014-10-21 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.
Eurofins Ntd Llc (ga) RCV000147657 SCV000335676 benign not specified 2015-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000527736 SCV000633799 benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808409 SCV002056716 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147657 SCV000195106 likely benign not specified no assertion criteria provided clinical testing

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