Submissions for variant NM_001282531.3(ADNP):c.2931A>G (p.Gly977=)

gnomAD frequency: 0.00132  dbSNP: rs144684998

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002318624	SCV000849856	likely benign	Inborn genetic diseases	2017-02-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV000908789	SCV001053569	benign	not provided	2024-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000908789	SCV001839748	benign	not provided	2019-08-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253592	SCV002524709	benign	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002253592	SCV002798603	likely benign	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	2021-11-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918173	SCV004731365	likely benign	ADNP-related condition	2019-05-24	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).