ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.196G>A (p.Val66Ile)

gnomAD frequency: 0.00231  dbSNP: rs61748438
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000297047 SCV000343554 benign not specified 2016-08-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000331407 SCV000413930 likely benign Leber congenital amaurosis 7 2018-03-06 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000085992 SCV000603228 benign not provided 2021-08-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085992 SCV000780642 likely benign not provided 2018-02-01 criteria provided, single submitter clinical testing
Invitae RCV001087305 SCV001021432 benign Leber congenital amaurosis 7; Cone-rod dystrophy 2 2021-12-13 criteria provided, single submitter clinical testing
Mendelics RCV000990234 SCV001141111 likely benign Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001128897 SCV001288390 benign Retinitis pigmentosa 2018-03-06 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 RCV001135902 SCV001295708 benign Cone-rod dystrophy 2 2018-03-06 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.
GeneDx RCV000085992 SCV001752982 likely benign not provided 2018-12-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27013732, 27884173, 16123401, 24066033, 24265693)
Retina International RCV000085992 SCV000118135 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV000085992 SCV001925326 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000085992 SCV001968278 likely benign not provided no assertion criteria provided clinical testing

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