Submissions for variant NM_000523.4(HOXD13):c.500A>G (p.Tyr167Cys)

gnomAD frequency: 0.00004  dbSNP: rs200067774

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202911	SCV000257698	benign	not specified	2015-07-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057040	SCV002450817	benign	not provided	2023-12-11	criteria provided, single submitter	clinical testing
GeneDx	RCV002057040	SCV002525262	uncertain significance	not provided	2021-11-30	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34321610)
CeGaT Center for Human Genetics Tuebingen	RCV002057040	SCV004150133	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	HOXD13: BS2
PreventionGenetics, part of Exact Sciences	RCV004553104	SCV004752271	likely benign	HOXD13-related disorder	2019-08-12	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).