ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.530-29G>A

gnomAD frequency: 0.04932  dbSNP: rs74393433
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000114222 SCV000312482 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542916 SCV001761328 benign Joubert syndrome 7 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543009 SCV001761462 benign Meckel syndrome, type 5 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001650941 SCV001864364 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650941 SCV005292027 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000114222 SCV000147779 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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