ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1327-19A>G

gnomAD frequency: 0.00048  dbSNP: rs375412069
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426795 SCV000526448 likely benign not specified 2016-04-07 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 RCV001516892 SCV001725258 benign Developmental and epileptic encephalopathy, 36 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516892 SCV002524914 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001516892 SCV002801136 likely benign Developmental and epileptic encephalopathy, 36 2022-02-01 criteria provided, single submitter clinical testing

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