ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.826-8del

gnomAD frequency: 0.00004  dbSNP: rs1176620455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607589 SCV000730124 likely benign not specified 2017-06-30 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 RCV001449229 SCV001652340 likely benign Mitochondrial DNA depletion syndrome 9 2023-11-08 criteria provided, single submitter clinical testing

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