ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.907-25AAT[3]

dbSNP: rs398099213
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179963 SCV000232287 benign not specified 2014-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000179963 SCV000313497 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001522398 SCV001731932 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001636711 SCV001850510 benign not provided 2018-06-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18055820)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000179963 SCV001743806 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000179963 SCV001927452 benign not specified no assertion criteria provided clinical testing

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