ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.456G>A (p.Leu152=)

gnomAD frequency: 0.00001  dbSNP: rs762934062
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 RCV000650348 SCV000772191 likely benign Developmental and epileptic encephalopathy, 36 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000650348 SCV002795993 likely benign Developmental and epileptic encephalopathy, 36 2021-07-20 criteria provided, single submitter clinical testing

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