ClinVar Miner

Submissions for variant NM_139242.4(MTFMT):c.146_153del (p.Arg49fs)

dbSNP: rs587777417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513541 SCV000608723 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
OMIM RCV000119835 SCV000154761 pathogenic Combined oxidative phosphorylation defect type 15 2014-03-01 no assertion criteria provided literature only

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