ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1435+20A>G

gnomAD frequency: 0.00004  dbSNP: rs368555602
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 RCV002139761 SCV002448434 benign Developmental and epileptic encephalopathy, 36 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002139761 SCV002810789 likely benign Developmental and epileptic encephalopathy, 36 2021-11-22 criteria provided, single submitter clinical testing

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