ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.82+8G>A

dbSNP: rs1601929107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000944581 SCV001090552 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277294 SCV001464234 uncertain significance Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-03-11 no assertion criteria provided clinical testing

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