ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) (rs34116882)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243340 SCV000313494 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350563 SCV000385448 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401518 SCV000385449 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549811 SCV000641418 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2017-06-04 criteria provided, single submitter clinical testing
Retina International RCV000086251 SCV000118397 not provided not provided no assertion provided not provided

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