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

gnomAD frequency: 0.00132  dbSNP: rs144684998

Total submissions: 7

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: 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000908789	SCV001053569	benign	not provided	2025-01-28	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
Breakthrough Genomics, Breakthrough Genomics	RCV000908789	SCV005209955	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003918173	SCV004731365	likely benign	ADNP-related disorder	2019-05-24	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).