Submissions for variant NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del)

dbSNP: rs754444655

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000971248	SCV001118878	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000971248	SCV001935339	benign	not provided	2019-05-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253741	SCV002524759	benign	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	2021-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003928507	SCV004744198	likely benign	AHDC1-related disorder	2023-02-20	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).
CeGaT Center for Human Genetics Tuebingen	RCV000971248	SCV005093653	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	AHDC1: PM4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000971248	SCV001742821	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000971248	SCV001973125	uncertain significance	not provided		no assertion criteria provided	clinical testing