ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1887T>C (p.Asn629=)

dbSNP: rs1188688924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612498 SCV000723020 likely benign not specified 2017-09-21 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 RCV001491082 SCV001695666 likely benign Pitt-Hopkins syndrome 2022-03-13 criteria provided, single submitter clinical testing

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