ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.4752T>G (p.Tyr1584Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diseases Diagnostic Center, Koc University Hospital RCV003389589 SCV004101721 likely pathogenic Alkuraya-Kucinskas syndrome criteria provided, single submitter clinical testing

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