ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) (rs117364872)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000292443 SCV000397808 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349758 SCV000397809 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390519 SCV000397810 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734409 SCV000862549 uncertain significance not provided 2018-08-15 criteria provided, single submitter clinical testing

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