ClinVar Miner

Submissions for variant NM_005589.4(ALDH6A1):c.1307A>G (p.Gln436Arg)

dbSNP: rs1037162967
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335296 SCV001528414 uncertain significance Methylmalonate semialdehyde dehydrogenase deficiency 2018-08-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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