ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1308A>G (p.Lys436=)

gnomAD frequency: 0.00001  dbSNP: rs1423402192
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840138 SCV000982055 likely benign not provided 2019-11-04 criteria provided, single submitter clinical testing
Invitae RCV001079819 SCV001068673 likely benign Developmental and epileptic encephalopathy, 36 2024-01-27 criteria provided, single submitter clinical testing

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