ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.1253+814G>A

gnomAD frequency: 0.00875  dbSNP: rs183951730
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV004997241 SCV000843833 benign not specified 2023-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713245 SCV001155153 benign not provided 2024-11-01 criteria provided, single submitter clinical testing SGCE: BP4, BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV001515206 SCV001723226 benign Myoclonic dystonia 11 2024-12-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713245 SCV005221092 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000713245 SCV001743360 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000713245 SCV001800016 likely benign not provided no assertion criteria provided clinical testing

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