ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)

gnomAD frequency: 0.00001  dbSNP: rs1345924349
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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 RCV001333885 SCV001526583 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2018-07-31 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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