ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.692del (p.Phe231fs)

dbSNP: rs1741122462
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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 RCV001257402 SCV001433901 likely pathogenic Clubfoot; Arthrogryposis multiplex congenita; Severe hydrocephalus 2019-10-16 criteria provided, single submitter clinical testing

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