ClinVar Miner

Submissions for variant NM_181705.4(LYRM7):c.309del (p.Lys103fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV002294538 SCV002586997 likely pathogenic Mitochondrial complex III deficiency nuclear type 8 2022-10-26 criteria provided, single submitter clinical testing

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