ClinVar Miner

Submissions for variant NM_001382241.1(TNPO2):c.83A>G (p.Gln28Arg)

dbSNP: rs2145624064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001837549 SCV002098349 uncertain significance TNPO2-related disorder 2022-01-03 criteria provided, single submitter clinical testing This individual has been published in PMID: 34314705.
OMIM RCV001730152 SCV001977106 pathogenic Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 2021-10-11 no assertion criteria provided literature only

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