ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.685A>G (p.Met229Val)

gnomAD frequency: 0.00002  dbSNP: rs371960953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001726884 SCV001961373 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005998 SCV005632612 uncertain significance Methylmalonic aciduria, cblB type 2024-01-15 criteria provided, single submitter clinical testing

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