ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1236+13A>G

gnomAD frequency: 0.00341  dbSNP: rs2701026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124694 SCV000168128 benign not specified 2013-06-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001513899 SCV001721602 benign Pyruvate dehydrogenase E3 deficiency 2024-01-31 criteria provided, single submitter clinical testing

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