ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2715G>A (p.Arg905=)

gnomAD frequency: 0.00001  dbSNP: rs534108312
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388893 SCV000352848 likely benign Retinitis pigmentosa 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000275709 SCV000352849 likely benign Pigmented paravenous retinochoroidal atrophy 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000326100 SCV000352850 likely benign Leber congenital amaurosis 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000945918 SCV001091992 benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000326100 SCV004180076 likely benign Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000275709 SCV004180077 likely benign Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454866 SCV004180078 likely benign Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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