ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1848C>T (p.Ala616=)

dbSNP: rs759645955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444488 SCV000526613 likely benign not specified 2016-04-14 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 RCV001477752 SCV001681999 likely benign Pitt-Hopkins syndrome 2022-07-14 criteria provided, single submitter clinical testing

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