ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1650-14C>T

gnomAD frequency: 0.00002  dbSNP: rs569480730
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128386 SCV000171983 benign not specified 2013-05-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055838 SCV002403282 benign Pitt-Hopkins syndrome 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422019 SCV004143131 benign not provided 2023-01-01 criteria provided, single submitter clinical testing TCF4: BS1, BS2

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