Submissions for variant NM_001282531.3(ADNP):c.2666G>C (p.Ser889Thr)

gnomAD frequency: 0.00359  dbSNP: rs34342624

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002314420	SCV000847976	benign	Inborn genetic diseases	2017-12-26	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Invitae	RCV000887290	SCV001030840	benign	not provided	2024-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000887290	SCV001862387	benign	not provided	2021-01-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253585	SCV002524714	benign	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000887290	SCV004154703	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	ADNP: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003953269	SCV004770408	benign	ADNP-related disorder	2021-06-15	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).