ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.33C>T (p.Pro11=)

gnomAD frequency: 0.45704  dbSNP: rs3845570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001838952 SCV002098801 benign Combined oxidative phosphorylation deficiency 35 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074397 SCV002421322 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002074397 SCV005287694 benign not provided criteria provided, single submitter not provided

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