ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.785C>G (p.Ala262Gly) (rs138018739)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000591311 SCV000709203 benign not specified 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV001086608 SCV001007045 benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132612 SCV000172563 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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