ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.365G>A (p.Gly122Asp) (rs61748441)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153123 SCV000202583 benign not specified 2013-12-27 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000086000 SCV000280868 benign not provided 2016-01-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373510 SCV000413934 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 Clinical Services Laboratory,Illumina RCV000286039 SCV000413935 likely benign Cone-rod dystrophy 2 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 Clinical Services Laboratory,Illumina RCV000339186 SCV000413936 likely benign Leber congenital amaurosis 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). 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.
Broad Institute Rare Disease Group,Broad Institute RCV000153123 SCV000574527 benign not specified 2016-11-20 criteria provided, single submitter reference population ACMG Criteria: BA1. In ExAC, allele frequency >5% for Latinos for variant included on genotyping array for patients with Leiber congenital amaurosis (PMID: 16123401), a rare, moderate pediatric-onset autosomal recessive condition, with 60 homozygotes.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000153123 SCV000883687 benign not specified 2019-05-05 criteria provided, single submitter clinical testing
Invitae RCV001082272 SCV001020710 benign Leber congenital amaurosis 7; Cone-rod dystrophy 2 2019-12-31 criteria provided, single submitter clinical testing
Retina International RCV000086000 SCV000118143 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000086000 SCV000172553 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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