ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys)

dbSNP: rs372990620
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720107 SCV000520853 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24501762, 28887793, 28940310, 25732998)
Invitae RCV002064987 SCV002391677 benign Developmental and epileptic encephalopathy, 36 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002064987 SCV002524947 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002064987 SCV002805438 likely benign Developmental and epileptic encephalopathy, 36 2021-07-19 criteria provided, single submitter clinical testing

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