Submissions for variant NM_003922.4(HERC1):c.5941G>A (p.Val1981Ile)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV003004218	SCV003713749	likely benign	Inborn genetic diseases	2021-08-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV003395679	SCV004132648	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	HERC1: BP4
PreventionGenetics, part of Exact Sciences	RCV003954025	SCV004768769	likely benign	HERC1-related disorder	2024-02-22	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).
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University	RCV003156043	SCV003842207	uncertain significance	Macrocephaly, dysmorphic facies, and psychomotor retardation		no assertion criteria provided	research