ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.240C>T (p.Ala80=)

gnomAD frequency: 0.00004  dbSNP: rs1016828034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719021 SCV000725696 likely benign not provided 2019-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767666 SCV002436817 likely benign Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2024-07-22 criteria provided, single submitter clinical testing

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