ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2754ACC[18] (p.Pro943_Pro945dup)

dbSNP: rs750710267
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803356 SCV000943222 likely benign Developmental and epileptic encephalopathy, 36 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000838609 SCV000980482 likely benign not provided 2017-02-20 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.
Fulgent Genetics, Fulgent Genetics RCV000803356 SCV002803015 likely benign Developmental and epileptic encephalopathy, 36 2022-02-23 criteria provided, single submitter clinical testing

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