ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.141T>G (p.Ser47=) (rs62638631)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081933 SCV000284638 benign Primary ciliary dyskinesia 2020-08-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000251329 SCV000303609 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000251329 SCV000334108 likely benign not specified 2015-08-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000251329 SCV000712158 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing p.Ser47Ser in exon 2 of RPGR: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.1% (47/34663) of E uropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad; dbSNP rs62638631).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000251329 SCV001159739 benign not specified 2018-09-27 criteria provided, single submitter clinical testing
Retina International RCV000085056 SCV000117192 not provided not provided no assertion provided not provided
Clinical Genetics,Academic Medical Center RCV000251329 SCV001921452 benign not specified no assertion criteria provided clinical testing

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