Submissions for variant NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=)

gnomAD frequency: 0.00097  dbSNP: rs142247083

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000500955	SCV000593046	benign	not specified	2016-10-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314860	SCV000848874	likely benign	Inborn genetic diseases	2016-07-01	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.
Invitae	RCV000953394	SCV001099966	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000953394	SCV001890860	benign	not provided	2020-01-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253495	SCV002524704	benign	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	2021-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003960145	SCV004772885	likely benign	ADNP-related condition	2020-01-10	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).