ClinVar Miner

Submissions for variant NM_013391.3(DMGDH):c.1097A>G (p.Asn366Ser)

gnomAD frequency: 0.00913  dbSNP: rs77116243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433746 SCV000517824 benign not specified 2016-03-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV004716434 SCV005302320 benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV004716434 SCV005434314 benign not provided 2024-10-01 criteria provided, single submitter clinical testing DMGDH: BP4, BS1, BS2

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