ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) (rs775153934)

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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 RCV000397052 SCV000397787 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291093 SCV000397788 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343656 SCV000397789 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000251212 SCV000312462 likely benign not specified criteria provided, single submitter clinical testing

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