ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) (rs182207372)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000285017 SCV000397845 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339982 SCV000397846 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380550 SCV000397847 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing

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