ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.289G>A (p.Asp97Asn)

gnomAD frequency: 0.00006  dbSNP: rs766087007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330964 SCV001522841 uncertain significance Combined oxidative phosphorylation deficiency 35 2019-03-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546428 SCV003259660 likely benign not provided 2022-08-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001330964 SCV003821518 uncertain significance Combined oxidative phosphorylation deficiency 35 2022-02-18 criteria provided, single submitter clinical testing

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