ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.*28T>C

gnomAD frequency: 0.07060  dbSNP: rs41302107
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244605 SCV000317151 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310439 SCV000352884 benign Retinitis pigmentosa 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000358109 SCV000352885 benign Pigmented paravenous retinochoroidal atrophy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000265822 SCV000352886 likely benign Leber congenital amaurosis 8 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001517601 SCV001726129 benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-12-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000265822 SCV001748643 benign Leber congenital amaurosis 8 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000358109 SCV001748644 benign Pigmented paravenous retinochoroidal atrophy 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001532871 SCV001748645 benign Retinitis pigmentosa 12 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001597031 SCV001830387 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28819299)
Breakthrough Genomics, Breakthrough Genomics RCV001597031 SCV005261009 likely benign not provided criteria provided, single submitter not provided

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