ClinVar Miner

Submissions for variant NM_001382241.1(TNPO2):c.1643C>T (p.Ser548Phe)

dbSNP: rs2145492753
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV002253064 SCV002523178 likely pathogenic Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 2022-02-03 criteria provided, single submitter clinical testing This variant has been previously published in a different individual (PMID: 34314705).

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