ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.139G>A (p.Val47Ile)

gnomAD frequency: 0.00005  dbSNP: rs766512298
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001456345 SCV001660123 likely benign Developmental and epileptic encephalopathy, 36 2024-12-13 criteria provided, single submitter clinical testing

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