ClinVar Miner

Submissions for variant 46,XX,der(1)(q44,q44).seq[GRCh37/hg19]der(1)(1pter->1q44(+)(244867200)::TCGCC{5}::q44(-)(246816211),q44(-)(2460642{39-40})::CGG...CCC{49}::q44(+)(246569872)->1qter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000714958 SCV000807696 likely pathogenic Epileptic encephalopathy, early infantile, 54 2018-01-01 no assertion criteria provided research

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