ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.3399A>G (p.Val1133=)

gnomAD frequency: 0.00047  dbSNP: rs372982045
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697990 SCV000723741 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV000650341 SCV000772184 benign Developmental and epileptic encephalopathy, 36 2023-12-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000650341 SCV002524950 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000650341 SCV002803406 likely benign Developmental and epileptic encephalopathy, 36 2021-11-10 criteria provided, single submitter clinical testing

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