ClinVar Miner

Submissions for variant NM_003619.4(PRSS12):c.28C>G (p.Leu10Val)

gnomAD frequency: 0.00392  dbSNP: rs143520192
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514704 SCV000610627 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Invitae RCV000514704 SCV001121111 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001146301 SCV001307036 benign Intellectual disability, autosomal recessive 1 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.
Genetic Services Laboratory, University of Chicago RCV001821443 SCV002066269 likely benign not specified 2018-12-26 criteria provided, single submitter clinical testing

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