ClinVar Miner

Submissions for variant NM_013391.3(DMGDH):c.972G>A (p.Trp324Ter)

gnomAD frequency: 0.00088  dbSNP: rs139044238
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000963324 SCV001110473 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Elsea Laboratory, Baylor College of Medicine RCV001250107 SCV001424235 pathogenic Dimethylglycine dehydrogenase deficiency 2020-04-01 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001250107 SCV001984396 uncertain significance Dimethylglycine dehydrogenase deficiency 2020-09-01 criteria provided, single submitter clinical testing

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