ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.200C>T (p.Thr67Ile)

dbSNP: rs1114167372
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000490645 SCV000574519 uncertain significance Glucocorticoid deficiency with achalasia 2015-09-28 criteria provided, single submitter clinical testing

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