ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.36C>G (p.Ala12=)

gnomAD frequency: 0.00004  dbSNP: rs771793708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418996 SCV000528325 likely benign not specified 2016-06-01 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 RCV002521800 SCV001116347 likely benign Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2023-11-07 criteria provided, single submitter clinical testing

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