ClinVar Miner

Submissions for variant NM_017613.4(DONSON):c.786-22A>G (rs1135401960)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001261589 SCV001438859 likely pathogenic Microcephaly-micromelia syndrome criteria provided, single submitter clinical testing
OMIM RCV000496970 SCV000588190 pathogenic Microcephaly, short stature, and limb abnormalities 2017-08-04 no assertion criteria provided literature only

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