ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)

dbSNP: rs1555264243
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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 RCV000677649 SCV000803780 likely pathogenic ALDH18A1-related de Barsy syndrome 2016-09-14 criteria provided, single submitter clinical testing
OMIM RCV000677649 SCV003841148 pathogenic ALDH18A1-related de Barsy syndrome 2023-03-13 no assertion criteria provided literature only

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