ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) (rs115977487)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000355237 SCV000401253 benign Sjögren-Larsson syndrome 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514073 SCV000610772 likely benign not provided 2017-04-24 criteria provided, single submitter clinical testing
Invitae RCV000514073 SCV001114830 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000514073 SCV000802404 likely benign not provided 2016-02-29 no assertion criteria provided clinical testing

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