ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.*652_*654dup

dbSNP: rs886060418
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386846 SCV000456301 uncertain significance Frank-Ter Haar syndrome 2016-06-14 criteria provided, single submitter clinical testing

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