ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.-241dup

dbSNP: rs886053786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000261789 SCV000408576 uncertain significance Schinzel-Giedion syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002274982 SCV002563465 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SETBP1: BS1

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