ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys)

gnomAD frequency: 0.00008  dbSNP: rs372779649
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227802 SCV000286172 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-10-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000361515 SCV000341503 likely benign not specified 2017-06-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726063 SCV001962576 benign not provided 2023-03-01 criteria provided, single submitter clinical testing SPTAN1: PP2, BS1, BS2
Genome-Nilou Lab RCV001808663 SCV002056607 likely benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365183 SCV002661622 benign Inborn genetic diseases 2019-12-03 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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