ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr)

gnomAD frequency: 0.00515  dbSNP: rs73201156
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000376141 SCV000471140 benign Occult macular dystrophy 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455064 SCV000540206 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency (fails quality filter)
GeneDx RCV001576248 SCV001803394 likely benign not provided 2018-10-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502391 SCV002813167 benign Occult macular dystrophy; Retinitis pigmentosa 88 2021-08-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001576248 SCV005220498 likely benign not provided criteria provided, single submitter not provided

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