ClinVar Miner

Submissions for variant NM_018292.5(QRSL1):c.555C>A (p.Tyr185Ter)

dbSNP: rs763443331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Genetics Institute, Rambam Health Care Campus RCV000684830 SCV000787747 pathogenic Cardiomyopathy, mitochondrial 2018-05-13 criteria provided, single submitter research
OMIM RCV001035459 SCV001198786 pathogenic Combined oxidative phosphorylation deficiency 40 2020-04-10 no assertion criteria provided literature only

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