ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.594G>A (p.Ser198=)

gnomAD frequency: 0.00004  dbSNP: rs368553922
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600117 SCV000723628 likely benign not specified 2017-10-13 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.
Athena Diagnostics RCV000993287 SCV001146125 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001484572 SCV001688991 likely benign Pitt-Hopkins syndrome 2023-04-09 criteria provided, single submitter clinical testing

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