ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.3239C>T (p.Pro1080Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004821087 SCV005442001 uncertain significance Spondylocarpotarsal synostosis syndrome 2024-12-19 criteria provided, single submitter clinical testing

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