ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.453+13del

dbSNP: rs773804418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000345100 SCV000366301 uncertain significance Cutis Laxa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005222885 SCV005863852 likely benign Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2024-08-14 criteria provided, single submitter clinical testing

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