ClinVar Miner

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

dbSNP: rs1135401960
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Total submissions: 3
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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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001261589 SCV005038857 uncertain significance Microcephaly-micromelia syndrome 2024-03-14 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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