ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del)

dbSNP: rs56717389
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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 RCV000229502 SCV000285852 benign Developmental and epileptic encephalopathy, 36 2024-01-31 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000229502 SCV000746936 uncertain significance Developmental and epileptic encephalopathy, 36 2017-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884420 SCV004698538 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing ALG13: BS2

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