ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1813C>T (p.Gln605Ter)

dbSNP: rs1555710223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252686 SCV001163829 pathogenic Microcephaly no assertion criteria provided research
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003444736 SCV004171603 pathogenic Pitt-Hopkins syndrome 2023-11-24 no assertion criteria provided clinical testing

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