ClinVar Miner

Submissions for variant NM_000352.5(ABCC8):c.4516G>A (p.Glu1506Lys) (rs137852671)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201911 SCV000840601 pathogenic not provided 2018-01-19 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000201911 SCV000256805 pathogenic not provided 2015-10-07 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000009665 SCV000246303 pathogenic Persistent hyperinsulinemic hypoglycemia of infancy 2015-03-11 criteria provided, single submitter clinical testing
OMIM RCV000009665 SCV000029883 pathogenic Persistent hyperinsulinemic hypoglycemia of infancy 2008-08-01 no assertion criteria provided literature only

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