ClinVar Miner

Submissions for variant GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Oslo University Hospital RCV001263220 SCV001437585 pathogenic Diamond-Blackfan anemia 6 no assertion criteria provided clinical testing

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