ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)

gnomAD frequency: 0.00130  dbSNP: rs140353002
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128264 SCV000171856 benign not specified 2013-03-04 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.
Eurofins Ntd Llc (ga) RCV000128264 SCV000342660 likely benign not specified 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV000462041 SCV000562992 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000128264 SCV000615447 benign not specified 2016-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312944 SCV000847784 likely benign Inborn genetic diseases 2016-09-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV001808380 SCV002056693 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001808380 SCV002813175 likely benign Developmental and epileptic encephalopathy, 5 2021-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311692 SCV004010868 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SPTAN1: BP4, BP7, BS1

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