ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)

gnomAD frequency: 0.00078  dbSNP: rs62636285
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174188 SCV000225449 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292400 SCV000352878 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.
Illumina Laboratory Services, Illumina RCV000351445 SCV000352879 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). 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 RCV000400954 SCV000352880 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.
Invitae RCV001080373 SCV001020566 benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-28 criteria provided, single submitter clinical testing
Mendelics RCV000986498 SCV001135510 likely benign Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000086352 SCV001147585 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000086352 SCV001474313 benign not provided 2020-02-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000292400 SCV001748640 benign Leber congenital amaurosis 8 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000400954 SCV001748641 benign Pigmented paravenous retinochoroidal atrophy 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001532870 SCV001748642 benign Retinitis pigmentosa 12 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000086352 SCV001834784 likely benign not provided 2018-12-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12843338, 17964524, 16123401, 24811962, 22065545, 18055816, 11231775, 15459956, 11389483)
PreventionGenetics, part of Exact Sciences RCV003925094 SCV004739819 benign CRB1-related condition 2020-04-21 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Retina International RCV000086352 SCV000118498 not provided not provided no assertion provided not provided
Natera, Inc. RCV001271906 SCV001453400 likely benign Leber congenital amaurosis 2020-05-08 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000086352 SCV001924753 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000086352 SCV001970460 likely benign not provided no assertion criteria provided clinical testing

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