ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.81T>G (p.Ala27=)

dbSNP: rs1411239127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615905 SCV000721916 likely benign not specified 2017-08-23 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 RCV003633527 SCV004388405 likely benign Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2023-03-17 criteria provided, single submitter clinical testing

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