ClinVar Miner

Submissions for variant NM_005589.4(ALDH6A1):c.1479A>G (p.Gly493=)

dbSNP: rs886050730
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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 RCV000386378 SCV000388397 uncertain significance Methylmalonate semialdehyde dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003708514 SCV004483937 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing

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