ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2153-4G>C

gnomAD frequency: 0.00156  dbSNP: rs201380599
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081722 SCV000113653 likely benign not specified 2015-09-19 criteria provided, single submitter clinical testing
GeneDx RCV001573698 SCV000519743 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing
Invitae RCV000636978 SCV000758426 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001118787 SCV001277096 uncertain significance Joubert syndrome 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001120738 SCV001279241 uncertain significance Nephronophthisis 8 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001120739 SCV001279242 uncertain significance Meckel syndrome, type 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573698 SCV001799947 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573698 SCV001932484 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573698 SCV001974610 likely benign not provided no assertion criteria provided clinical testing

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