ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.89-1G>C

dbSNP: rs2139642879
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227592 SCV002506629 uncertain significance ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3 2021-04-23 criteria provided, single submitter clinical testing

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