ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.732G>A (p.Lys244=) (rs62638654)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179749 SCV000232048 benign not specified 2015-04-17 criteria provided, single submitter clinical testing
Invitae RCV001083777 SCV000284646 benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000179749 SCV000303621 benign not specified criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085119 SCV000609380 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Retina International RCV000085119 SCV000117256 not provided not provided no assertion provided not provided

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