ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.2121G>A (p.Ala707=)

gnomAD frequency: 0.00003  dbSNP: rs753837028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558245 SCV001780151 likely benign not provided 2020-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771705 SCV002425397 likely benign Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2025-01-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005057509 SCV005725687 likely benign not specified 2024-11-26 criteria provided, single submitter clinical testing

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