ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.2774G>A (p.Gly925Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital RCV004556170 SCV005045303 likely pathogenic Spondylocarpotarsal synostosis syndrome 2024-02-01 no assertion criteria provided clinical testing

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