ClinVar Miner

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

dbSNP: rs772766102
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080879 SCV000554238 benign Developmental and epileptic encephalopathy, 36 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000710504 SCV000718283 likely benign not provided 2022-09-16 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Athena Diagnostics RCV000710504 SCV000840740 benign not provided 2018-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710504 SCV001962653 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing ALG13: BS2
Genome-Nilou Lab RCV001080879 SCV002524929 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451147 SCV002738379 likely benign Inborn genetic diseases 2017-09-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000710504 SCV001975285 likely benign not provided no assertion criteria provided clinical testing

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