ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2913C>T (p.Ser971=)

gnomAD frequency: 0.00001  dbSNP: rs1944100964
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 RCV002133183 SCV002444445 likely benign Developmental and epileptic encephalopathy, 36 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002133183 SCV002795689 likely benign Developmental and epileptic encephalopathy, 36 2022-02-03 criteria provided, single submitter clinical testing

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