ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup)

dbSNP: rs1569522034
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804715 SCV000944637 likely benign Developmental and epileptic encephalopathy, 36 2024-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000804715 SCV002795341 likely benign Developmental and epileptic encephalopathy, 36 2021-11-21 criteria provided, single submitter clinical testing

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