ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg)

gnomAD frequency: 0.00001  dbSNP: rs771886198
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425545 SCV000528672 likely benign not specified 2018-01-09 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.
Eurofins Ntd Llc (ga) RCV000727624 SCV000854891 uncertain significance not provided 2017-08-23 criteria provided, single submitter clinical testing
Invitae RCV001521448 SCV001730796 benign Early infantile epileptic encephalopathy with suppression bursts 2023-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808818 SCV002056595 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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