ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.1098C>T (p.Ile366=)

gnomAD frequency: 0.01691  dbSNP: rs16826617
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002214609 SCV002362593 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003348792 SCV004049337 benign Combined oxidative phosphorylation deficiency 35 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002214609 SCV005287690 benign not provided criteria provided, single submitter not provided

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