ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[1] (p.1021VEGE[1])

dbSNP: rs201134185
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548490 SCV001768409 likely benign not provided 2019-10-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31213628)
PreventionGenetics, part of Exact Sciences RCV001548490 SCV002759555 benign not provided 2019-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568300 SCV003514843 benign Primary ciliary dyskinesia 2025-02-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815567 SCV005071348 likely benign Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing

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