ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.2772del (p.Thr923_Tyr924insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) RCV003228737 SCV003925558 likely pathogenic Spondylocarpotarsal synostosis syndrome criteria provided, single submitter clinical testing

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