ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.155A>T (p.Lys52Ile)

gnomAD frequency: 0.00172  dbSNP: rs73496064
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118122 SCV000152466 benign not specified 2017-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000118122 SCV000171299 benign not specified 2014-03-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV000388565 SCV000465753 benign Pontocerebellar hypoplasia type 6 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.
Invitae RCV000676835 SCV001012949 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000388565 SCV001984512 benign Pontocerebellar hypoplasia type 6 2020-01-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676835 SCV000802645 likely benign not provided 2016-03-16 no assertion criteria provided clinical testing
Natera, Inc. RCV000388565 SCV001455546 benign Pontocerebellar hypoplasia type 6 2020-09-16 no assertion criteria provided clinical testing

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