ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val)

gnomAD frequency: 0.00058  dbSNP: rs369167525
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722661 SCV000719013 likely benign not provided 2019-10-02 criteria provided, single submitter clinical testing
Invitae RCV000866473 SCV001007575 benign Developmental and epileptic encephalopathy, 36 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000866473 SCV002524948 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing

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