ClinVar Miner

Submissions for variant NM_001379210.1(SLC25A26):c.498+13G>A

gnomAD frequency: 0.54714  dbSNP: rs332354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000844089 SCV000986136 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001807361 SCV002055907 benign Combined oxidative phosphorylation deficiency 28 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV000844089 SCV002407567 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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