ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000355237 SCV000401253 likely benign Sjögren-Larsson syndrome 2016-06-14 criteria provided, single submitter clinical testing
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
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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