ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.*901A>G

gnomAD frequency: 0.00006  dbSNP: rs750903762
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000304872 SCV000397691 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359702 SCV000397692 uncertain significance Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265013 SCV000397693 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing

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