ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2248-4A>G

gnomAD frequency: 0.00325  dbSNP: rs370438099
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419937 SCV000519297 benign not specified 2016-02-15 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 RCV000463027 SCV000554234 benign Developmental and epileptic encephalopathy, 36 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313056 SCV000847468 benign Inborn genetic diseases 2017-09-25 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genome-Nilou Lab RCV000463027 SCV002524924 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000463027 SCV002806259 benign Developmental and epileptic encephalopathy, 36 2021-10-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573537 SCV005277913 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573537 SCV001799557 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573537 SCV001931334 likely benign not provided no assertion criteria provided clinical testing

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