ClinVar Miner

Submissions for variant NM_005589.4(ALDH6A1):c.*433C>T

gnomAD frequency: 0.11114  dbSNP: rs1135886
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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 RCV000353685 SCV000388385 likely benign Methylmalonate semialdehyde dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705298 SCV005212506 likely benign not provided criteria provided, single submitter not provided

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