ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1221+11C>T

gnomAD frequency: 0.02463  dbSNP: rs113357847
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147603 SCV000171821 benign not specified 2012-05-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001519540 SCV001728421 benign Early infantile epileptic encephalopathy with suppression bursts 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808356 SCV002056632 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718028 SCV005320075 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000147603 SCV000195052 likely benign not specified no assertion criteria provided clinical testing

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