ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.*55T>A (rs4784319)

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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 RCV000393136 SCV000397730 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312663 SCV000397731 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367605 SCV000397732 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing

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