ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1995G>A (p.Ser665=)

gnomAD frequency: 0.00003  dbSNP: rs587781188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128389 SCV000171987 benign not specified 2014-03-03 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 RCV000869521 SCV001010955 likely benign Pitt-Hopkins syndrome 2023-06-21 criteria provided, single submitter clinical testing

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