ClinVar Miner

Submissions for variant NM_001001547.3(CD36):c.787_808del (p.Val263fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001095702 SCV001251520 likely pathogenic Platelet glycoprotein IV deficiency criteria provided, single submitter research The CD36 c.787_808del (p.Q262fs) variant is a frameshift deletion of 22 nucleotides, which is predicted to result in a nonfunctional protein.

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