ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del)

dbSNP: rs1468160803
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817410 SCV000957967 likely benign Developmental and epileptic encephalopathy, 36 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000817410 SCV002807255 likely benign Developmental and epileptic encephalopathy, 36 2021-09-24 criteria provided, single submitter clinical testing

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