ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.541A>G (p.Thr181Ala)

gnomAD frequency: 0.00002  dbSNP: rs774646647
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 RCV001493840 SCV001698481 likely benign Developmental and epileptic encephalopathy, 36 2024-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001493840 SCV002803550 likely benign Developmental and epileptic encephalopathy, 36 2021-07-06 criteria provided, single submitter clinical testing

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