Submissions for variant NM_001371928.1(AHDC1):c.3572G>A (p.Ser1191Asn)

gnomAD frequency: 0.00052  dbSNP: rs146401682

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000882742	SCV001026000	benign	not provided	2024-01-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000882742	SCV001746842	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	AHDC1: BS1
GeneDx	RCV000882742	SCV001834047	benign	not provided	2021-01-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253663	SCV002524756	benign	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002540036	SCV003682524	likely benign	Inborn genetic diseases	2022-08-08	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.
PreventionGenetics, part of Exact Sciences	RCV003955854	SCV004784328	likely benign	AHDC1-related disorder	2020-08-25	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).