ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2793G>A (p.Glu931=)

gnomAD frequency: 0.00203  dbSNP: rs1446705794
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589590 SCV001815198 likely benign not provided 2019-10-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495936 SCV002795764 likely benign X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic 2022-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002573288 SCV003242837 likely benign Primary ciliary dyskinesia 2023-08-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001589590 SCV005209228 likely benign not provided criteria provided, single submitter not provided

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