ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.801del (p.Asp268fs)

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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 RCV003989943 SCV004806062 likely pathogenic Ellis-van Creveld syndrome 2024-03-25 criteria provided, single submitter clinical testing

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