ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2106T>G (p.Ser702Arg)

dbSNP: rs797044876
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190689 SCV000244130 uncertain significance Inborn genetic diseases 2013-12-24 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Fulgent Genetics, Fulgent Genetics RCV002503747 SCV002815759 uncertain significance Developmental and epileptic encephalopathy, 36 2022-03-07 criteria provided, single submitter clinical testing

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