ClinVar Miner

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

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Total submissions: 6
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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 2020-11-23 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
Clinical Genetics,Academic Medical Center RCV000179749 SCV001922990 benign not specified no assertion criteria provided clinical testing

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