ClinVar Miner

Submissions for variant NM_020191.4(MRPS22):c.987+15del

dbSNP: rs372892045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350316 SCV000441278 uncertain significance Combined oxidative phosphorylation deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000486503 SCV000565180 likely benign not specified 2018-03-09 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 RCV002520089 SCV003296705 likely benign not provided 2023-02-14 criteria provided, single submitter clinical testing

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