ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.675T>C (p.Gly225=)

gnomAD frequency: 0.01233  dbSNP: rs73726765
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185844 SCV000238795 benign not specified 2014-07-07 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.
Eurofins Ntd Llc (ga) RCV000185844 SCV000700372 benign not specified 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000947058 SCV001093223 benign Pyruvate dehydrogenase E3 deficiency 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712160 SCV005271170 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000947058 SCV001464053 benign Pyruvate dehydrogenase E3 deficiency 2020-09-16 no assertion criteria provided clinical testing

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