ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.4768_4771del (p.Ile1590fs)

dbSNP: rs1553703909
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677698 SCV000803846 likely pathogenic Spondylocarpotarsal synostosis syndrome 2016-01-13 criteria provided, single submitter clinical testing

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