ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.83-9C>T

gnomAD frequency: 0.00008  dbSNP: rs374612111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001458728 SCV001662555 likely benign not provided 2024-02-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278846 SCV001465892 uncertain significance Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-08-28 no assertion criteria provided clinical testing

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