ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) (rs772766102)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080879 SCV000554238 benign Epileptic encephalopathy, early infantile, 36 2020-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000710504 SCV000718283 likely benign not provided 2020-10-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710504 SCV000840740 benign not provided 2018-01-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000710504 SCV001740322 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000710504 SCV001798636 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000710504 SCV001930767 likely benign not provided no assertion criteria provided clinical testing

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