ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.789+18G>A

gnomAD frequency: 0.00001  dbSNP: rs541018682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198691 SCV001369686 likely benign Pitt-Hopkins syndrome 2018-09-26 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BS2,BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001198691 SCV002383080 likely benign Pitt-Hopkins syndrome 2023-07-07 criteria provided, single submitter clinical testing

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