Submissions for variant NM_005222.4(DLX6):c.75GCA[6] (p.Gln43_Gln44del)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002902946	SCV003248435	uncertain significance	not provided	2023-04-10	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DLX6-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.93_98del, results in the deletion of 2 amino acid(s) of the DLX6 protein (p.Gln43_Gln44del), but otherwise preserves the integrity of the reading frame.
PreventionGenetics, part of Exact Sciences	RCV003973513	SCV004790480	benign	DLX6-related disorder	2020-06-11	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).