ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs)

dbSNP: rs794728006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000000212 SCV001950104 pathogenic Frank-Ter Haar syndrome 2021-08-26 criteria provided, single submitter clinical testing This variant was identified as homozygous.
OMIM RCV000000212 SCV000020355 pathogenic Frank-Ter Haar syndrome 2010-02-12 no assertion criteria provided literature only
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000000212 SCV000809061 likely pathogenic Frank-Ter Haar syndrome 2017-06-01 no assertion criteria provided research
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg RCV000000212 SCV000999009 pathogenic Frank-Ter Haar syndrome no assertion criteria provided clinical testing

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