ClinVar Miner

Submissions for variant NM_006003.3(UQCRFS1):c.215-1G>C

dbSNP: rs1568344751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000758256 SCV000886523 pathogenic Propionic acidemia; Cardiomyopathy; Lactic acidosis 2019-02-27 criteria provided, single submitter in vitro
OMIM RCV001003400 SCV001161687 pathogenic Mitochondrial complex 3 deficiency, nuclear type 10 2020-02-14 no assertion criteria provided literature only
Undiagnosed Diseases Network, NIH RCV001003400 SCV002818552 likely pathogenic Mitochondrial complex 3 deficiency, nuclear type 10 2021-07-12 no assertion criteria provided clinical testing

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