ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1922A>G (p.His641Arg)

gnomAD frequency: 0.00010  dbSNP: rs766772102
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703775 SCV000523408 likely benign not provided 2020-01-13 criteria provided, single submitter clinical testing
Invitae RCV000545605 SCV000652510 likely benign Developmental and epileptic encephalopathy, 36 2023-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000545605 SCV002799019 likely benign Developmental and epileptic encephalopathy, 36 2022-01-24 criteria provided, single submitter clinical testing

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