Submissions for variant NM_021973.3(HAND2):c.70_96del (p.Ala24_Ala32del)

dbSNP: rs753612276

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001877774	SCV002139381	uncertain significance	not provided	2024-12-10	criteria provided, single submitter	clinical testing	This variant, c.70_96del, results in the deletion of 9 amino acid(s) of the HAND2 protein (p.Ala24_Ala32del), but otherwise preserves the integrity of the reading frame. 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 has not been reported in the literature in individuals affected with HAND2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1374338). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Breakthrough Genomics, Breakthrough Genomics	RCV001877774	SCV005190333	uncertain significance	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003911067	SCV004724668	likely benign	HAND2-related disorder	2019-08-09	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).