ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) (rs1800548)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622340 SCV000742855 uncertain significance Inborn genetic diseases 2017-08-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085395 SCV000574772 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085395 SCV000336165 uncertain significance not provided 2017-02-17 criteria provided, single submitter clinical testing
Retina International RCV000085395 SCV000117532 not provided not provided no assertion provided not provided

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