ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1828C>T (p.Gln610Ter)

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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 RCV004821218 SCV005442303 pathogenic Ellis-van Creveld syndrome 2024-12-19 criteria provided, single submitter clinical testing

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