ClinVar Miner

Submissions for variant NM_017547.4(FOXRED1):c.1054C>T (p.Arg352Trp) (rs387907087)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622603 SCV000742451 pathogenic Inborn genetic diseases 2017-05-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
OMIM RCV000024042 SCV000045333 pathogenic Mitochondrial complex 1 deficiency, nuclear type 19 2010-12-15 no assertion criteria provided literature only

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