Submissions for variant NM_001127198.5(TMC6):c.633+8C>T

gnomAD frequency: 0.00008  dbSNP: rs369450669

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768339	SCV000899029	uncertain significance	Epidermodysplasia verruciformis, susceptibility to, 1	2021-03-30	criteria provided, single submitter	clinical testing	TMC6 NM_007267.7 exon 7 c.633+8C>T: This variant has not been reported in the literature but is present in 11/103598 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs369450669). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001487117	SCV001691601	likely benign	Epidermodysplasia verruciformis	2024-06-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918256	SCV004728057	likely benign	TMC6-related disorder	2023-03-14	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).