ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.567C>G (p.Ile189Met)

dbSNP: rs192537315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435446 SCV000514968 likely benign not specified 2017-10-05 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.
Invitae RCV000891993 SCV001035846 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835795 SCV002076153 benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2019-12-10 no assertion criteria provided clinical testing

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