ClinVar Miner

Submissions for variant NM_004737.6(LARGE1):c.1792G>A (p.Glu598Lys) (rs144045461)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171355 SCV000221552 likely pathogenic not provided no assertion criteria provided research
Genetic Services Laboratory, University of Chicago RCV000504467 SCV000595564 uncertain significance not specified 2016-07-01 criteria provided, single submitter clinical testing

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