ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.237+4C>T

gnomAD frequency: 0.00007  dbSNP: rs371350283
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192804 SCV000249020 uncertain significance not specified 2014-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000192804 SCV000518096 benign not specified 2015-09-09 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.
Invitae RCV000824340 SCV000965235 benign Early infantile epileptic encephalopathy with suppression bursts 2023-10-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808552 SCV002056519 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453710 SCV002735859 benign Inborn genetic diseases 2019-05-24 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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