ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) (rs121918818)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188910 SCV000242540 likely benign not specified 2017-10-23 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000188910 SCV000333391 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing
Invitae RCV000526763 SCV000633845 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Invitae RCV001472297 SCV001676426 likely benign Early infantile epileptic encephalopathy with suppression bursts 2020-12-08 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059490 SCV000091016 unknown significance Autistic disorder of childhood onset no assertion criteria provided not provided Converted during submission to Uncertain significance.

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