ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.117T>C (p.His39=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005223442 SCV005866076 likely benign Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 2024-12-10 criteria provided, single submitter clinical testing

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