ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu)

dbSNP: rs863225045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856780 SCV000999336 pathogenic ALDH18A1-related de Barsy syndrome criteria provided, single submitter clinical testing
OMIM RCV000201214 SCV000255930 pathogenic Cutis laxa, autosomal dominant 3 2015-09-03 no assertion criteria provided literature only

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