ClinVar Miner

Submissions for variant NM_005589.4(ALDH6A1):c.112-31GTTT[5]

dbSNP: rs370924173
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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 RCV000275352 SCV000388412 likely benign Methylmalonate semialdehyde dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517006 SCV001725390 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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