ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)

dbSNP: rs1602140936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824884 SCV000965794 pathogenic Allan-Herndon-Dudley syndrome 2014-01-01 criteria provided, single submitter clinical testing
Solve-RD Consortium RCV000824884 SCV005091346 likely pathogenic Allan-Herndon-Dudley syndrome 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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