ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.923-17G>T

gnomAD frequency: 0.00010  dbSNP: rs550597992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440622 SCV000520404 likely benign not specified 2015-11-02 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.
Fulgent Genetics, Fulgent Genetics RCV002488909 SCV002802456 likely benign Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 2022-02-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519518 SCV002998647 benign Pitt-Hopkins syndrome 2024-01-17 criteria provided, single submitter clinical testing

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