ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2754ACC[10] (p.Pro941_Pro945del)

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
GeneDx RCV001704834 SCV000730994 likely benign not provided 2020-02-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034268 SCV001197604 likely benign Developmental and epileptic encephalopathy, 36 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704834 SCV004167462 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing ALG13: BP3, BS2

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