ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1377C>G (p.Ala459=)

gnomAD frequency: 0.00005  dbSNP: rs368020541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311099 SCV001501142 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001501901 SCV001706722 likely benign Developmental and epileptic encephalopathy, 36 2024-01-16 criteria provided, single submitter clinical testing

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