ClinVar Miner

Submissions for variant NM_139242.4(MTFMT):c.1116del (p.Pro373fs)

dbSNP: rs863224897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000196317 SCV000255416 likely pathogenic Combined oxidative phosphorylation defect type 15 2014-06-17 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000196317 SCV004805712 likely pathogenic Combined oxidative phosphorylation defect type 15 2024-03-29 criteria provided, single submitter clinical testing

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