ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.7090C>T (p.Leu2364=)

gnomAD frequency: 0.00002  dbSNP: rs374893683
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230563 SCV000286173 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000422053 SCV000514773 benign not specified 2015-04-09 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.
Genome-Nilou Lab RCV001808664 SCV002056717 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365184 SCV002663082 likely benign Inborn genetic diseases 2019-07-31 criteria provided, single submitter clinical testing This alteration is classified as likely 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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