ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.9153del (p.Val3052fs)

dbSNP: rs1773935759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Reproductive Medicine, Peking University Third Hospital RCV001257376 SCV001433903 pathogenic Hemivertebrae; Renal agenesis; Right aortic arch 2019-10-16 criteria provided, single submitter clinical testing

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