ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2798_2799insACCTCC (p.Pro944_Pro945dup)

dbSNP: rs1569522034
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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 RCV001034285 SCV001197623 benign Developmental and epileptic encephalopathy, 36 2025-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584844 SCV005075435 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing ALG13: BS2

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