ClinVar Miner

Submissions for variant NM_013391.3(DMGDH):c.898C>T (p.Leu300Phe)

gnomAD frequency: 0.00421  dbSNP: rs145258663
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427791 SCV000512814 benign not specified 2018-02-12 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.
CeGaT Center for Human Genetics Tuebingen RCV003437162 SCV004163008 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing DMGDH: BS1
Breakthrough Genomics, Breakthrough Genomics RCV003437162 SCV005302322 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003932557 SCV004747364 benign DMGDH-related disorder 2021-01-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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