ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) (rs387906257)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001709 SCV000798444 pathogenic Sjögren-Larsson syndrome 2018-03-05 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676619 SCV000802411 likely pathogenic not provided 2016-03-10 no assertion criteria provided clinical testing
OMIM RCV000001709 SCV000021865 pathogenic Sjögren-Larsson syndrome 1997-05-01 no assertion criteria provided literature only

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