ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.2302C>A (p.Pro768Thr)

gnomAD frequency: 0.02675  dbSNP: rs34117835
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253894 SCV000303618 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000456928 SCV000557298 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001689791 SCV001906739 benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000456928 SCV002731770 benign Primary ciliary dyskinesia 2014-12-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.

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