ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=)

gnomAD frequency: 0.00645  dbSNP: rs112955915
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147651 SCV000171864 benign not specified 2013-02-07 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 RCV000147651 SCV000195100 likely benign not specified 2012-09-07 criteria provided, single submitter clinical testing
Invitae RCV001080420 SCV000562988 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713522 SCV000844144 benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312948 SCV000847396 benign Inborn genetic diseases 2016-03-18 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.
Genome-Nilou Lab RCV001808388 SCV002056711 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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