ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) (rs148230131)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224936 SCV000280821 uncertain significance not provided 2015-10-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000321854 SCV000397817 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364967 SCV000397818 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272739 SCV000397819 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing

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