ClinVar Miner

Submissions for variant NM_153689.6(C2orf69):c.298del (p.Gln100fs)

dbSNP: rs2077262520
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090653 SCV001246325 pathogenic not provided 2024-09-01 criteria provided, single submitter clinical testing C2orf69: PVS1, PM2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001533283 SCV001983771 pathogenic Combined oxidative phosphorylation deficiency 53 criteria provided, single submitter clinical testing
OMIM RCV001533283 SCV001749100 pathogenic Combined oxidative phosphorylation deficiency 53 2021-07-09 no assertion criteria provided literature only

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