ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs758628820
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000981052 SCV001129016 likely benign not provided 2023-10-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277295 SCV001464235 uncertain significance Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-02-13 no assertion criteria provided clinical testing

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