ClinVar Miner

Submissions for variant NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile)

gnomAD frequency: 0.01018  dbSNP: rs188718836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000676589 SCV001728137 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000676589 SCV001896261 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509123 SCV000606876 not provided Combined oxidative phosphorylation defect type 15 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Mayo Clinic Laboratories, Mayo Clinic RCV000676589 SCV000802376 likely benign not provided 2016-03-02 no assertion criteria provided clinical testing

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