ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=)

gnomAD frequency: 0.00154  dbSNP: rs139799727
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128267 SCV000171859 benign not specified 2014-02-07 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 RCV000128267 SCV000249026 benign not specified 2016-08-02 criteria provided, single submitter clinical testing
Invitae RCV001084967 SCV000633787 benign Early infantile epileptic encephalopathy with suppression bursts 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713520 SCV000844141 benign not provided 2017-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312945 SCV000847754 benign Inborn genetic diseases 2016-09-06 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.
Eurofins Ntd Llc (ga) RCV000128267 SCV000863296 likely benign not specified 2018-09-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808383 SCV002056700 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713520 SCV002546094 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing SPTAN1: BP4, BP7, BS1

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