ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2797CCT[10] (p.Pro943_Pro945del)

dbSNP: rs56717389
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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 RCV000803245 SCV000943107 likely benign Developmental and epileptic encephalopathy, 36 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001578216 SCV001805763 likely benign not provided 2019-11-11 criteria provided, single submitter clinical testing

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