ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.3174A>G (p.Ser1058=)

gnomAD frequency: 0.00003  dbSNP: rs369901028
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 RCV001474342 SCV001678511 likely benign Developmental and epileptic encephalopathy, 36 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001474342 SCV002805275 likely benign Developmental and epileptic encephalopathy, 36 2022-04-12 criteria provided, single submitter clinical testing

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