ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.360C>T (p.Gly120=)

gnomAD frequency: 0.00312  dbSNP: rs79765751
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173155 SCV000224247 likely benign not specified 2015-06-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396592 SCV000440864 benign Congenital stationary night blindness autosomal dominant 1 2018-01-12 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 RCV000293004 SCV000440865 likely benign Retinitis pigmentosa 2018-01-12 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.
Invitae RCV000880753 SCV001023873 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000173155 SCV001159289 benign not specified 2018-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000880753 SCV001873943 benign not provided 2019-06-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11139241)
Clinical Genetics, Academic Medical Center RCV000173155 SCV001919987 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000880753 SCV001956635 likely benign not provided no assertion criteria provided clinical testing

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