ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.7161-8G>A

gnomAD frequency: 0.00014  dbSNP: rs202180736
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128278 SCV000171870 benign not specified 2013-09-19 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) RCV000727497 SCV000709143 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV001084816 SCV000757950 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808392 SCV002056613 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001808392 SCV004563115 likely benign Developmental and epileptic encephalopathy, 5 2023-11-14 criteria provided, single submitter clinical testing

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