ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.*4214GTTTTT[3]

dbSNP: rs571078805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000298320 SCV000409464 uncertain significance Pitt-Hopkins syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422295 SCV004143127 benign not provided 2022-10-01 criteria provided, single submitter clinical testing TCF4: BS1, BS2

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