ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=)

gnomAD frequency: 0.00353  dbSNP: rs3214060
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176880 SCV000228638 benign not specified 2014-06-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368460 SCV000432591 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000951240 SCV001097620 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492765 SCV002804130 likely benign Retinitis pigmentosa 33 2022-03-30 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888630 SCV004705425 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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