ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.825+18A>G

gnomAD frequency: 0.00323  dbSNP: rs143229361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433265 SCV000514823 likely benign not specified 2017-10-13 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 RCV002061534 SCV002401265 benign Mitochondrial DNA depletion syndrome 9 2024-01-15 criteria provided, single submitter clinical testing

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