ClinVar Miner

Submissions for variant NM_013391.3(DMGDH):c.696del (p.Glu233fs)

dbSNP: rs2112659102
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV002477914 SCV002775052 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733651 SCV001984395 uncertain significance Dimethylglycine dehydrogenase deficiency 2020-09-01 flagged submission clinical testing

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