Submissions for variant NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del)

dbSNP: rs530256606

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000954364	SCV001100993	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Mendelics	RCV000986285	SCV001135229	likely benign	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000986285	SCV001370139	uncertain significance	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	2019-05-09	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP3.
GeneDx	RCV000954364	SCV001844626	benign	not provided	2020-04-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000954364	SCV004124758	benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	AHDC1: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003978265	SCV004788628	benign	AHDC1-related disorder	2019-11-04	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).