ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1729C>T (p.Leu577=)

gnomAD frequency: 0.00020  dbSNP: rs201295052
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000733432 SCV000530337 likely benign not provided 2021-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084047 SCV000758456 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2025-01-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733432 SCV000861502 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001109606 SCV001266960 uncertain significance Meckel syndrome, type 4 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 RCV001109607 SCV001266961 uncertain significance Bardet-Biedl syndrome 14 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 RCV001109608 SCV001266962 uncertain significance Senior-Loken syndrome 6 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 RCV001111898 SCV001269505 uncertain significance Joubert syndrome 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.
Illumina Laboratory Services, Illumina RCV001111899 SCV001269506 uncertain significance Leber congenital amaurosis 10 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.
Genome-Nilou Lab RCV001111898 SCV001716341 uncertain significance Joubert syndrome 5 2021-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001109607 SCV001781434 uncertain significance Bardet-Biedl syndrome 14 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001109606 SCV001781435 uncertain significance Meckel syndrome, type 4 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001109608 SCV001781436 uncertain significance Senior-Loken syndrome 6 2021-07-14 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000733432 SCV001917344 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000733432 SCV001930800 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000733432 SCV001966106 likely benign not provided no assertion criteria provided clinical testing

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