ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.454-9A>G

gnomAD frequency: 0.00002  dbSNP: rs775098819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848354 SCV002106281 uncertain significance Hereditary spastic paraplegia 2020-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772377 SCV003292825 likely benign Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2024-01-29 criteria provided, single submitter clinical testing

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