ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.*1839dup

gnomAD frequency: 0.52230  dbSNP: rs397720891
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000273145 SCV000456279 benign Frank-Ter Haar syndrome 2016-06-14 criteria provided, single submitter clinical testing

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