ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1171-10_1171-9del

dbSNP: rs372840031
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079553 SCV000111435 benign not specified 2015-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000079553 SCV000242440 benign not specified 2012-09-19 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 RCV000195838 SCV000252754 benign Early infantile epileptic encephalopathy with suppression bursts 2025-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079553 SCV000307025 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000326892 SCV000417823 likely benign Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380997 SCV000417824 likely benign Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000079553 SCV001475464 benign not specified 2024-07-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079553 SCV001741745 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000079553 SCV001931961 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000079553 SCV002035876 benign not specified no assertion criteria provided clinical testing

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