ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.589+16A>G

gnomAD frequency: 0.04250  dbSNP: rs115384987
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128337 SCV000171930 benign not specified 2011-10-19 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 RCV001522846 SCV001732462 benign Mitochondrial DNA depletion syndrome 9 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708057 SCV005243103 benign not provided criteria provided, single submitter not provided

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