ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.2255C>T (p.Thr752Met)

gnomAD frequency: 0.00832  dbSNP: rs28399531
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000366450 SCV000474171 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999880 SCV000884462 benign Retinitis pigmentosa 1 2018-09-14 criteria provided, single submitter clinical testing
Invitae RCV000086961 SCV001095027 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000086961 SCV000119214 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV001699125 SCV001921500 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000086961 SCV001964658 likely benign not provided no assertion criteria provided clinical testing

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