ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.3114+6del

dbSNP: rs587777614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000133461 SCV000188496 pathogenic Seckel syndrome 8 2014-02-01 no assertion criteria provided literature only
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000162161 SCV000196447 likely pathogenic Ateleiotic dwarfism 2014-12-01 no assertion criteria provided research

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