ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg)

gnomAD frequency: 0.00001  dbSNP: rs749852225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001255269 SCV001431633 uncertain significance Primary ciliary dyskinesia 2018-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001255269 SCV003441812 likely benign Primary ciliary dyskinesia 2024-01-22 criteria provided, single submitter clinical testing

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