ClinVar Miner

Submissions for variant NM_015386.3(COG4):c.2006C>T (p.Ala669Val)

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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 RCV003990396 SCV004806984 likely pathogenic Microcephalic osteodysplastic dysplasia, Saul-Wilson type 2024-03-26 criteria provided, single submitter clinical testing

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