ClinVar Miner

Submissions for variant NM_017679.5(BCAS3):c.1630C>T (p.Arg544Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV004785241 SCV005387956 likely pathogenic Hengel-Maroofian-Schols syndrome 2024-11-06 criteria provided, single submitter clinical testing

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