ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.552G>T (p.Gln184His)

gnomAD frequency: 0.02128  dbSNP: rs5963403
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251248 SCV000303620 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000459428 SCV000557304 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001618379 SCV001845645 benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000459428 SCV002651664 benign Primary ciliary dyskinesia 2015-12-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002503925 SCV002805282 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 2022-04-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618379 SCV005276112 benign not provided criteria provided, single submitter not provided

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