ClinVar Miner

Submissions for variant NM_001378418.1(TCF20):c.719CCT[5] (p.Ser245_Ser246del)

dbSNP: rs754279263
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wangler Lab, Baylor College of Medicine RCV002287639 SCV002577662 uncertain significance Developmental delay with variable intellectual impairment and behavioral abnormalities criteria provided, single submitter clinical testing This TCF20 variant at c.734_739del (p.S245_S246del) was discovered on exome through the Texome Project (R01HG011795). This variant is predicted to cause a deletion that does not disrupt the reading frame. The variant has been observed in gnomAD with a frequency of <0.001%. This residue is highly conserved. We classify this as a variant of uncertain significance.
Revvity Omics, Revvity RCV002287639 SCV003827126 uncertain significance Developmental delay with variable intellectual impairment and behavioral abnormalities 2020-04-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV002287639 SCV003836464 uncertain significance Developmental delay with variable intellectual impairment and behavioral abnormalities 2022-05-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003728070 SCV004526841 likely benign not provided 2024-02-15 criteria provided, single submitter clinical testing

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