ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.1032+1G>A (rs1569178877)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000680060 SCV000807500 pathogenic Microcephalic osteodysplastic primordial dwarfism type 2 2017-09-01 criteria provided, single submitter clinical testing This splice site variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory homozygous in a 4-year-old female with possible microcephalic primordial osteodysplastic syndrome

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