ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2248-15G>C

gnomAD frequency: 0.00039  dbSNP: rs139711892
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610567 SCV000720850 likely benign not specified 2017-07-06 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.
Invitae RCV001522834 SCV001732449 benign Developmental and epileptic encephalopathy, 36 2023-12-27 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000610567 SCV001984091 benign not specified 2020-12-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001522834 SCV002524923 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001522834 SCV002803370 likely benign Developmental and epileptic encephalopathy, 36 2021-10-21 criteria provided, single submitter clinical testing

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