ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.401+1G>A

dbSNP: rs367543284
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Research; Murdoch Childrens Research Institute RCV000201206 SCV000081774 pathogenic Frank-Ter Haar syndrome no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000201206 SCV000255614 pathogenic Frank-Ter Haar syndrome 2014-06-01 no assertion criteria provided literature only

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