Submissions for variant NM_001109878.2(TBX22):c.176-13C>A

gnomAD frequency: 0.00447  dbSNP: rs55760411

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513907	SCV000610737	likely benign	not provided	2017-08-18	criteria provided, single submitter	clinical testing
Mendelics	RCV000990887	SCV001141940	benign	Cleft palate with or without ankyloglossia, X-linked	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000990887	SCV001330694	likely benign	Cleft palate with or without ankyloglossia, X-linked	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000513907	SCV004165943	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	TBX22: BS1
PreventionGenetics, part of Exact Sciences	RCV003925529	SCV004739363	likely benign	TBX22-related condition	2020-06-12	criteria provided, single submitter	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).