ClinVar Miner

Submissions for variant NM_001378418.1(TCF20):c.960ACA[2] (p.Gln322del)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002958575 SCV003277179 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002958575 SCV004153206 benign not provided 2023-11-01 criteria provided, single submitter clinical testing TCF20: BP3, BS1, BS2
GeneDx RCV002958575 SCV005326063 uncertain significance not provided 2023-10-16 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003943635 SCV004764299 likely benign TCF20-related disorder 2022-02-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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