ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.1211C>A (p.Thr404Asn)

dbSNP: rs760435544
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001278849 SCV001465895 likely benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-08-19 no assertion criteria provided clinical testing

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