ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.1214T>C (p.Ile405Thr)

gnomAD frequency: 0.00004  dbSNP: rs776537579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336380 SCV001529744 uncertain significance Combined oxidative phosphorylation deficiency 35 2018-11-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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