Submissions for variant NM_021008.4(DEAF1):c.51_92del (p.Val19_Ala32del)

dbSNP: rs758496577

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001536332	SCV001753074	likely benign	not provided	2021-05-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001536332	SCV003231025	uncertain significance	not provided	2021-04-01	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 with DEAF1-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 ExAC database. This variant, c.51_92del, results in the deletion of 14 amino acid(s) of the DEAF1 protein (p.Val19_Ala32del), but otherwise preserves the integrity of the reading frame.
CeGaT Center for Human Genetics Tuebingen	RCV001536332	SCV004128652	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	DEAF1: BS2